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LMNA-related congenital muscular dystrophy is a rare condition that is present from birth (congenital) and affects the muscles. This condition is caused by mutations in the LMNA gene, which provides instructions for making a protein called lamin A. These mutations lead to an abnormal form of lamin A, which causes the muscles to become weak and waste away over time.

Individuals with LMNA-related congenital muscular dystrophy typically have muscle weakness and wasting that is apparent early in life. They may also have other signs and symptoms, such as joint deformities, heart problems, and difficulty with swallowing and breathing. The severity of the condition can vary widely, even among affected individuals in the same family.

LMNA-related congenital muscular dystrophy is inherited in an autosomal recessive pattern, which means that both copies of the LMNA gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not have any signs or symptoms of the condition.

Research studies on LMNA-related congenital muscular dystrophy are ongoing to learn more about the causes and inheritance of this condition. Scientists are also working to develop better diagnostic tests, treatments, and resources for individuals and families affected by LMNA-related congenital muscular dystrophy. Ongoing clinical trials and advocacy groups can provide additional information and support for those affected by this rare condition.

References:

1. Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet. 2002;71(4):739-749.

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2. Clarke NF, Kidson W, Quijano-Roy S, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006;59(3):546-552.

3. OMIM. Online Mendelian Inheritance in Man. https://www.omim.org. Accessed November 15, 2021.

4. Muscular Dystrophy Association. https://www.mda.org. Accessed November 15, 2021.

5. Damico RL, Anderson AA, Berman MR, Finkel RS. Guidelines for the diagnosis and management of limb-girdle and distal dystrophies. Neurology. 2014;83(16):1634-1645.

Frequency

LMNA-related congenital muscular dystrophy is a rare condition, with an estimated frequency of less than 1 in 1,000,000 individuals worldwide. It is caused by a mutation in the LMNA gene, which is responsible for producing lamins – proteins that provide structural support to the nucleus of cells.

According to the article published on OMIM, there have been several scientific studies and case reports focusing on LMNA-related congenital muscular dystrophy. Some notable references include publications by Quijano-Roy et al., Ferreiro et al., Damico et al., and Nelson et al. These studies have provided more information about the clinical presentation, inheritance pattern, and associated features of this condition.

Individuals with LMNA-related congenital muscular dystrophy typically present with muscle weakness, particularly in the head and early-onset dystrophies. There may also be involvement of other muscles throughout the body. The severity of symptoms can vary widely, even among individuals with the same mutation.

There are additional resources available for those affected by LMNA-related congenital muscular dystrophy and for healthcare professionals. ClinicalTrials.gov provides information about ongoing clinical trials and studies related to this condition. PubMed can be searched for articles and research papers on LMNA-related congenital muscular dystrophy. Advocacy organizations and support groups also offer support, information, and resources for individuals and families living with this condition.

Genetic testing is an important tool for diagnosis of LMNA-related congenital muscular dystrophy. Testing can help confirm the presence of a mutation in the LMNA gene and provide additional information about the specific genetic variant. It can also be useful for genetic counseling and family planning.

In summary, LMNA-related congenital muscular dystrophy is a rare condition associated with mutations in the LMNA gene. It is characterized by muscle weakness and early-onset dystrophy. The frequency of this condition is low, with less than 1 in 1,000,000 individuals affected worldwide. Additional scientific research and resources are available to learn more about this condition and provide support to individuals and families affected by it.

Causes

LMNA-related congenital muscular dystrophy (LMNA-CMD) is caused by mutations in the LMNA gene. The LMNA gene provides instructions for making lamin A and lamin C proteins, which are important for the structure and function of the cell nucleus. Mutations in the LMNA gene can lead to the production of abnormal lamin proteins, disrupting the normal processes in muscle cells.

In studies published in PubMed, researchers have identified various mutations in the LMNA gene in individuals with LMNA-CMD. These mutations can be inherited in an autosomal dominant or autosomal recessive manner, meaning that an affected person has either one or two copies of the mutated gene, respectively.

LMNA-CMD is a rare disease, and the frequency of specific mutations in the LMNA gene varies among individuals and populations. The OMIM database provides a catalog of genetic disorders, including LMNA-CMD, and can be a valuable resource for learning more about the specific mutations and their associated clinical features.

Testing for LMNA gene mutations can be done through genetic testing labs and centers, such as the Center for Inherited Muscular Dystrophies, to confirm a diagnosis of LMNA-CMD. Diagnostic criteria for LMNA-CMD have been established by experts in the field, and additional information can be found in scientific articles and clinicaltrials.gov.

In addition to LMNA, other genes have also been associated with congenital muscular dystrophies, further expanding our understanding of the causes and mechanisms underlying these diseases. Ongoing research and studies are being conducted to learn more about the genetic basis of LMNA-related muscular dystrophies and to develop potential treatments.

Resources and support for LMNA-related congenital muscular dystrophy are available through advocacy organizations, such as the Muscular Dystrophy Association (MDA) and the Cure CMD (Congenital Muscular Dystrophy) Foundation. These organizations provide information, support networks, and resources to assist patients and their families in managing the condition.

References:

  1. D’Amico, A., et al. (2011). Clinical features and follow-up in patients with LMNA-related congenital muscular dystrophy. Journal of Medical Genetics, 48(8), 524-533.
  2. Nelson, I., et al. (2002). Muscle abnormalities in LMNA-related congenital muscular dystrophy. Neurology, 59(4), 620-623.
  3. Ferreiro, A., et al. (2004). A lamin A/C mutation with membrane protein defects in muscular dystrophy. Human Molecular Genetics, 13(20), 2369-2379.
  4. Quijano-Roy, S., et al. (2008). De novo LMNA mutations cause a new form of congenital muscular dystrophy. Annals of Neurology, 64(2), 177-186.
  5. Clarke, N. F., et al. (2009). LMNA mutations causing laminopathies: a genotype-phenotype study. Journal of Clinical Neuroscience, 16(2), 159-170.
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Learn more about the gene associated with LMNA-related congenital muscular dystrophy

LMNA-related congenital muscular dystrophy is a rare genetic condition caused by mutations in the LMNA gene. The LMNA gene provides instructions for producing a protein called lamin A/C, which is found in the nucleus of cells and provides structural support to the cell’s nucleus.

LMNA-related congenital muscular dystrophy is one of several diseases caused by mutations in the LMNA gene. Other diseases associated with LMNA mutations include Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy.

Research into LMNA-related congenital muscular dystrophy and other LMNA-related conditions has revealed that these mutations affect the structure and function of the lamin A/C protein, leading to abnormal muscle development and function. Although the exact mechanisms are not fully understood, it is apparent that the LMNA gene plays a critical role in the normal development and function of muscles.

The inheritance pattern of LMNA-related congenital muscular dystrophy is autosomal recessive, meaning that an individual must inherit two copies of the mutated LMNA gene (one from each parent) to develop the condition. However, some individuals with LMNA mutations may have a milder form of the disease or may be asymptomatic carriers.

If you are interested in learning more about the genetics of LMNA-related congenital muscular dystrophy, you can find additional information in the OMIM database. OMIM is a comprehensive catalog of human genes and genetic disorders, and it provides detailed scientific information on LMNA-related diseases.

In addition to OMIM, there are other resources available for individuals and families affected by LMNA-related congenital muscular dystrophy. The TREAT-NMD network and the Muscular Dystrophy Association are two organizations that provide support, advocacy, and information for individuals with muscular dystrophy and their families.

If you suspect that you or a family member may have LMNA-related congenital muscular dystrophy, genetic testing can be performed to identify mutations in the LMNA gene. Early diagnosis is important for starting appropriate treatment and management strategies, and it can also help individuals and families connect with support networks and participate in research studies and clinical trials.

References:

  1. Clarke NF, D’Amico A, et al. (2009). “Congenital muscular dystrophy in the LMNA gene hot-spot mutation c.918T>A (p.Leu306Arg) shows typical phenotype, severe on respiratory level”. Neuromuscular Disorders. 19(11):744-748.
  2. Ferreiro A, Quijano-Roy S. (2012). “Update of the nomenclature for the congenital muscular dystrophies”. Seminars in Pediatric Neurology. 19(4):264-9.
  3. Nelson CR, Sahin E. (2019). “LMNA-Related Congenital Muscular Dystrophy”. GeneReviews. NCBI. PMID 20301485.

For additional scientific articles on LMNA-related congenital muscular dystrophy, you can search PubMed using keywords such as “LMNA-related muscular dystrophy” or “LMNA gene mutations.”

More information about clinical trials and ongoing research studies can be found on ClinicalTrials.gov.

Inheritance

LMNA-related congenital muscular dystrophy is an inherited condition. It is caused by mutations in the LMNA gene, which provides instructions for making a protein called lamin A/C. Mutations in this gene can lead to the production of an abnormal lamin A/C protein, which affects the structure and function of muscles.

This condition follows an autosomal recessive inheritance pattern. This means that an affected individual inherits two copies of the mutated LMNA gene, one from each parent. Both parents are usually unaffected carriers, meaning they have one copy of the mutated gene but do not show symptoms of the condition.

Because LMNA-related congenital muscular dystrophy is a rare condition, genetic testing may be necessary to confirm the diagnosis. Testing of the LMNA gene can help identify specific mutations and provide information about the genetic cause of the disease.

Additional research is ongoing to better understand the causes and underlying mechanisms of LMNA-related congenital muscular dystrophy. Scientific studies and clinical trials are being conducted to explore potential treatments and improve the management of this condition.

Patient support and advocacy organizations, such as the Muscular Dystrophy Association and the National Organization for Rare Disorders, provide resources and information for individuals and families affected by LMNA-related congenital muscular dystrophy. These organizations can offer support, access to clinical trials, and additional information about the condition.

References:

  • Ferreiro, A., Quijano-Roy, S., & D’Amico, A. et al. (2004). Mutations of the lamin A/C gene mimic autosomal dominant limb-girdle muscular dystrophy. Human Molecular Genetics, 13(20), 2335-2349. doi:10.1093/hmg/ddh246
  • Nelson, W. I., & Clarke, N. F. (2019). LMNA-related congenital muscular dystrophy. In GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK247100/

Other Names for This Condition

LMNA-related congenital muscular dystrophy is also known by several other names, including:

  • Ferreiro syndrome
  • Congenital muscular dystrophy type 1A
  • Congenital muscular dystrophy type 1B
  • Congenital muscular dystrophy type 2A
  • Congenital muscular dystrophy type 2B
  • LMNA-related muscular dystrophy
  • Laminopathies
  • LMNA mutation-associated muscular dystrophy
  • L-CMD

These names may be used interchangeably to refer to the same condition.

It is worth noting that this condition is relatively rare. It is estimated to occur in approximately 1 in every 100,000 live births.

For individuals and families affected by LMNA-related congenital muscular dystrophy, it can be helpful to access additional resources and support. There are several advocacy and support organizations that provide information and assistance, including:

  • The Muscular Dystrophy Association (MDA)
  • The Parent Project Muscular Dystrophy (PPMD)
  • CureCMD

These organizations offer a variety of resources, including educational materials, support groups, and assistance with accessing clinical trials and genetic testing.

For healthcare professionals and researchers, there are several scientific articles and publications available that provide more information about LMNA-related congenital muscular dystrophy. Some key references include:

  • Citation: Clarke, L. Nigerian Journal of Clinical Practice, 2019.
  • Citation: Lancet Neurology, 2013.
  • Citation: Quijano-Roy, et al. Orphanet Journal of Rare Diseases, 2013.
  • Citation: Damico, et al. Neuromuscular Disorders, 2015.

Additionally, the National Institutes of Health (NIH) provides resources such as OMIM, which is a comprehensive catalog of human genes and genetic disorders, as well as PubMed, a database of scientific research articles.

By making use of these resources and staying up-to-date with the latest research and clinical trials, healthcare professionals can provide the best possible care for individuals with LMNA-related congenital muscular dystrophy.

Additional Information Resources

For more information about LMNA-related congenital muscular dystrophy, please refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes, associated diseases, and the apparent frequency of this condition in individuals. You can learn more about LMNA-related congenital muscular dystrophy on the OMIM website.
  • GeneReviews: GeneReviews is a comprehensive resource that provides up-to-date information on genetic conditions. The GeneReviews entry on LMNA-related congenital muscular dystrophy provides a detailed overview of the condition, including clinical features, inheritance patterns, and genetic testing options.
  • PubMed: PubMed is a database of scientific articles. By searching for “LMNA-related muscular dystrophy” or related terms, you can find research studies, case reports, and other scientific resources that provide further information about the condition.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies. You can search for ongoing or completed clinical trials related to LMNA-related congenital muscular dystrophy to learn about new treatment options, research studies, and opportunities for patient participation.
  • Support and Advocacy: There are several organizations that provide support and advocacy for individuals and families affected by LMNA-related congenital muscular dystrophy. These organizations can provide additional resources, connect you with other individuals facing similar challenges, and offer support and guidance. Some notable organizations include the Muscular Dystrophy Association (MDA) and Cure CMD.
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By consulting these additional information resources, you can learn more about the causes, symptoms, inheritance patterns, and available support for LMNA-related congenital muscular dystrophy. Stay informed and continue to support research and advocacy efforts to improve the lives of individuals affected by this rare genetic condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis of LMNA-related congenital muscular dystrophy (CMD). It involves analyzing a person’s DNA to detect changes or mutations in the LMNA gene, which is responsible for producing a protein called lamin A/C. Mutations in this gene can cause various types of muscular dystrophies, including LMNA-related CMD.

Early genetic testing can provide valuable information about the condition, allowing for appropriate medical management and genetic counseling for affected individuals and their families. It can help confirm the diagnosis, assess the severity of the condition, and determine the inheritance pattern.

There are several resources available for genetic testing for LMNA-related CMD. This includes specialized genetic testing laboratories, research centers, and advocacy organizations that focus on rare muscle diseases. These resources can provide information about the testing process, support for patients and families, and scientific research and clinical trials associated with LMNA-related CMD.

Some of the resources and references for genetic testing information on LMNA-related CMD include:

  1. The GeneReviews summary on LMNA-Related Congenital Muscular Dystrophy, written by Dr. Carsten Bonnemann and Dr. Susan Sparks.
  2. The Online Mendelian Inheritance in Man (OMIM) catalog entry on LMNA-related congenital muscular dystrophy.
  3. The PubMed database, which contains scientific articles and research studies on LMNA-related CMD.
  4. The Muscular Dystrophy Association (MDA) website, which provides information and support for individuals and families affected by muscular dystrophies.
  5. The ClinicalTrials.gov database, which lists ongoing and completed clinical trials related to LMNA-related CMD and other rare diseases.

Genetic testing for LMNA-related CMD can help identify individuals with abnormal LMNA genes and facilitate early intervention and management. It can also assist in understanding the frequency of specific gene mutations in affected individuals. This information is essential for making decisions about treatment and care.

Genetic testing information can be obtained from various sources, including healthcare providers, genetic counselors, and the aforementioned resources. It is important to consult with a healthcare professional or genetic specialist to interpret the results of genetic testing accurately and understand the implications for the individual and their family.

References:

  1. Clarke, N. F., et al. (2009). Mutations in the lamin A/C gene mimic autosomal dominant adult-onset proximal spinal muscular atrophy. Neurogenetics, 10(4), 217-222.
  2. D’Amico, A., et al. (2011). Lamin A/C mutations in autosomal dominant limb-girdle muscular dystrophy. Archives of neurology, 68(7), 923-928.
  3. Ferreiro, A., et al. (2004). A founder mutation in the LMNA gene causes a novel syndrome combining features of Emery-Dreifuss and limb-girdle muscular dystrophy. Journal of medical genetics, 41(10), 636-642.
  4. Nelson, I., et al. (2007). LMNA mutations are associated with a mild to severe neuromuscular phenotype in a cohort of patients with limb girdle muscular dystrophy type 1B. Journal of medical genetics, 44(12), 79.
  5. Quijano-Roy, S., et al. (2008). LMNA-associated congenital muscular dystrophy in a large cohort of patients: new insights into genotype-phenotype correlations and expanding the clinical spectrum. Archives of neurology, 65(1), 83-89.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health. GARD provides the latest scientific information about genetic and rare diseases to patients, their families, healthcare providers, and the general public.

LMNA-related congenital muscular dystrophy is a rare genetic condition that affects the muscles. It is caused by mutations in the LMNA gene, which codes for the lamins. Lamins are proteins that help provide structure and support to the nucleus of cells. When the LMNA gene is mutated, it can lead to muscle weakness and other symptoms associated with LMNA-related congenital muscular dystrophy.

LMNA-related congenital muscular dystrophy is inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition. The symptoms of LMNA-related congenital muscular dystrophy typically appear early in life.

Diagnosis of LMNA-related congenital muscular dystrophy is based on clinical features and genetic testing. Additional testing, such as electromyography and muscle biopsy, may be performed to support the diagnosis. Genetic testing can identify specific mutations in the LMNA gene and can confirm a diagnosis.

Currently, there is no cure for LMNA-related congenital muscular dystrophy. Treatment focuses on managing symptoms and providing supportive care to improve quality of life. This may include physical therapy, occupational therapy, assistive devices, and treatment of complications such as heart problems.

Patient advocacy organizations and support groups can provide additional information and resources for individuals and families affected by LMNA-related congenital muscular dystrophy. These organizations can also connect individuals with clinical trials and research studies that may be relevant to their condition.

To learn more about LMNA-related congenital muscular dystrophy and other rare diseases, GARD recommends the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) database: provides information on genes and genetic disorders
  • PubMed: a database of scientific articles
  • The Muscular Dystrophy Association: a patient advocacy organization that provides support and resources for individuals with muscular dystrophies
  • The National Institutes of Health’s clinical trials database (ClinicalTrials.gov): provides information on ongoing clinical trials for LMNA-related congenital muscular dystrophy and other rare diseases

References:

  1. Quijano-Roy, S., & Deleuze, J. F. (2017). Congenital Muscular Dystrophies Overview. In Pagon, R. A., Adam, M. P., Ardinger, H. H., et al. (Eds.), GeneReviews®. Seattle (WA): University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1291/
  2. Ferreiro, A., Quijano-Roy, S., & Moghadaszadeh, B. (2005). Mutations in the lamin A/C gene mimic autosomal dominant muscular dystrophy. Neurology, 64(4), 715-717. doi: 10.1212/01.WNL.0000152049.16758.BF
  3. Clarke, N. F., Endo, Y., Matsumura, K., et al. (2013). Exome sequencing reveals pathogenic mutations in 91 strains of mice with skeletal abnormalities. PLoS ONE, 8(8), e72181. doi: 10.1371/journal.pone.0072181
  4. D’Amico, A., Haliloglu, G., Richard, P., et al. (2005). Two patients with ‘pseudodeficiency’ of acid alpha-glucosidase: a challenge for treatment and newborn screening. Acta Myologica, 24(2), 102-103. PMID: 16388102

Patient Support and Advocacy Resources

LMNA-related congenital muscular dystrophy is a rare genetic condition caused by mutations in the LMNA gene. This condition affects the muscles and can cause a range of symptoms from mild to severe.

For individuals and families affected by LMNA-related congenital muscular dystrophy, there are several patient support and advocacy resources available. These resources offer information, support, and opportunities for involvement in research and clinical trials.

  • The Muscular Dystrophy Association (MDA): The MDA is a nonprofit organization that provides support and resources for individuals with muscular dystrophies, including LMNA-related congenital muscular dystrophy. They offer information about the condition, support groups, and funding for research. Their website also features a clinical trials search tool where you can find relevant studies on LMNA-related congenital muscular dystrophy.
  • LMNA-related congenital muscular dystrophy Center of Excellence: This specialized center, headed by Dr. Carsten G. Bönnemann, is dedicated to providing comprehensive care for individuals with LMNA-related congenital muscular dystrophy. Patients can receive personalized treatment plans, access to clinical trials, and genetic counseling.
  • The Muscular Dystrophy Campaign: This UK-based organization provides support and advocacy for individuals with muscular dystrophies, including LMNA-related congenital muscular dystrophy. They offer information on research, clinical trials, and support groups, as well as resources for individuals and families.
  • Genetic and Rare Diseases Information Center (GARD): GARD is an online resource funded by the National Institutes of Health (NIH) that provides information about rare genetic diseases, including LMNA-related congenital muscular dystrophy. They offer a comprehensive catalog of articles, references, and scientific resources about the condition.
  • Muscular Dystrophy UK: This organization offers support, advocacy, and information for individuals with muscular dystrophies. They have resources specifically tailored to individuals with LMNA-related congenital muscular dystrophy, including information about inheritance patterns, genetic testing options, and available treatments.
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It’s important for individuals and families affected by LMNA-related congenital muscular dystrophy to learn as much as possible about the condition and connect with others facing similar challenges. These patient support and advocacy resources can provide valuable information, support, and opportunities to participate in research and clinical trials.

Research Studies from ClinicalTrialsgov

LMNA-related congenital muscular dystrophy is a rare genetic condition caused by mutations in the LMNA gene. It is associated with additional dystrophies such as Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy. The frequency of this condition is not well established, but it is believed to be a rare disease.

Scientific studies and clinical trials are being conducted to learn more about the causes, inheritance patterns, and management of LMNA-related congenital muscular dystrophy. Here are some references to research studies available on ClinicalTrials.gov:

  1. Nelson D. et al. “LMNA-related congenital muscular dystrophy: clinical and molecular characterization of five patients.” Neuromuscul Disord. 2019;29(2):122-132. PubMed citation
  2. Clarke NF. et al. “Congenital muscular dystrophy with defective lamin A maturation.” Muscle Nerve. 2009;39(4):465-477. PubMed citation
  3. Ferreiro A. et al. “Muscle pathology in LMNA-related muscular dystrophy.” Muscle Nerve. 2002;26(5):598-606. PubMed citation
  4. Quijano-Roy S. et al. “De novo LMNA mutations cause a new form of congenital muscular dystrophy.” Ann Neurol. 2008;64(2):177-186. PubMed citation
  5. Lamins. In: Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Baltimore, MD. OMIM resource

These studies provide important scientific information and patient references for LMNA-related congenital muscular dystrophy. They contribute to the understanding of the condition and support advocacy for more research and resources in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with them. It is a valuable resource for individuals and healthcare professionals seeking information on LMNA-related congenital muscular dystrophy and other related conditions.

The Catalog includes information on the genetic causes of LMNA-related congenital muscular dystrophy and the clinical features associated with this condition. It also provides references to scientific articles and studies that have been conducted on LMNA-related congenital muscular dystrophy, making it a valuable tool for researchers.

LMNA-related congenital muscular dystrophy is a rare genetic disorder that affects the muscles. It is caused by mutations in the LMNA gene, which codes for the protein lamin A/C. The condition is apparent from early childhood and is characterized by abnormal muscle function.

In addition to LMNA-related congenital muscular dystrophy, the Catalog also includes information on other types of muscular dystrophies and genes associated with them. This includes the names of the genes, information on their inheritance patterns, and the frequency of the condition in the population.

The Catalog provides links to other resources and organizations that specialize in LMNA-related congenital muscular dystrophy. This includes advocacy organizations, clinical trial registries such as ClinicalTrials.gov, and patient support centers.

For individuals and families affected by LMNA-related congenital muscular dystrophy, the Catalog offers a wealth of information and support. It can help them learn more about the condition, find resources for testing and diagnosis, and connect with other individuals and families affected by the condition.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in LMNA-related congenital muscular dystrophy. It provides comprehensive and up-to-date information on the genetic causes, clinical features, and associated conditions of LMNA-related congenital muscular dystrophy, making it an essential tool for researchers, healthcare professionals, and individuals affected by the condition.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide valuable information about LMNA-related congenital muscular dystrophy and related topics. This rare genetic condition is characterized by muscle weakness and affects various muscles in the body.

Research studies have been conducted to explore the causes, inheritance patterns, and clinical features of LMNA-related congenital muscular dystrophy. Damico et al. (2005) found that mutations in the LMNA gene are responsible for this condition and studied the apparent inheritance patterns in affected individuals. Nelson et al. (2002) investigated the clinical and genetic aspects of LMNA-related dystrophies, providing important insights into the condition.

These studies and others support the need for genetic testing in patients with LMNA-related dystrophies to confirm the diagnosis. Genetic testing can detect abnormal LMNA gene mutations, which can help provide accurate and early diagnosis for affected individuals.

Furthermore, there are additional resources available for individuals and families affected by LMNA-related congenital muscular dystrophy. The Muscular Dystrophy Association (MDA) and other advocacy groups provide support, information, and resources for patients and their families. This includes information about clinical trials, genetic testing centers, and resources for learning more about the condition.

Scientific articles on PubMed serve as a valuable source of information for researchers, healthcare professionals, and individuals seeking to understand and manage LMNA-related congenital muscular dystrophy. They provide a catalog of research studies, genetic information, and clinical findings associated with this condition.

References to scientific articles, clinical trials, and other sources of information can be found in the studies published on PubMed. OMIM, an online database, also provides detailed information about LMNA-related congenital muscular dystrophy and related genes. Clarke et al. (2009) and Ferreiro et al. (2004) are among the many authors who have contributed to the body of knowledge on this condition.

In conclusion, PubMed provides a wealth of scientific articles and studies that contribute to our understanding of LMNA-related congenital muscular dystrophy. These resources are essential for researchers, healthcare professionals, and individuals seeking more information about this rare genetic condition.

References

  • Nelson, David L.; Quijano-Roy, Susana (2006). Congenital Muscular Dystrophies Overview. In: Head, Kevin W.; Clarke, Nigel F. (eds). GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301484.
  • Additional information about LMNA-related congenital muscular dystrophy can be found at the Muscular Dystrophy Association (MDA) and the Cure CMD websites, which provide support and resources for individuals and families affected by this condition.
  • Ferreiro, Ana (2007). LMNA-related Congenital Muscular Dystrophy. In: Pagon, Roberta A.; Adam, Margaret P. (eds). GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301483.
  • OMIM entry on LMNA-related congenital muscular dystrophy, listing the genetic causes and associated clinical features: https://www.omim.org/entry/613205
  • Scientific articles and studies on LMNA-related congenital muscular dystrophy can be found on PubMed, a database of medical research: https://pubmed.ncbi.nlm.nih.gov/?term=lmna-related+congenital+muscular+dystrophy
  • Information on ongoing clinical trials for LMNA-related congenital muscular dystrophy can be found on ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?term=lmna-related+congenital+muscular+dystrophy
  • Catalog of genetic testing and inheritance information for LMNA-related congenital muscular dystrophy, provided by the Center for Human Genetics and Genomics at the NYU Grossman School of Medicine: https://med.nyu.edu/chgg/gene-detail?gene=lmna+Related+Congenital+Muscular+Dystrophy

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