LAMA2-related muscular dystrophy

LAMA2-related muscular dystrophy is a rare genetic condition caused by mutations in the LAMA2 gene. The LAMA2 gene provides instructions for making a protein called laminin alpha-2, which is important for the function of muscles and nerves. When the LAMA2 gene is mutated, the body produces a deficient or non-functional laminin alpha-2 protein, leading to the development of muscular dystrophy.

This condition is also known as merosin-deficient congenital muscular dystrophy type 1A (MDC1A). It is classified as a form of congenital muscular dystrophy because symptoms typically appear at birth or in early infancy. Patients with LAMA2-related muscular dystrophy often experience muscle weakness, contractures, and delayed development of motor skills. They may also have difficulties with breathing and swallowing.

LAMA2-related muscular dystrophy is inherited in an autosomal recessive pattern, which means that both copies of the LAMA2 gene must be mutated for a person to develop the condition. The frequency of this condition is estimated to be about 1 in 100,000 births.

Diagnosis of LAMA2-related muscular dystrophy can be made through genetic testing to identify mutations in the LAMA2 gene. Additional testing, such as muscle biopsies and imaging studies, may also be performed to assess the extent of muscle and nerve damage. Currently, there is no cure for LAMA2-related muscular dystrophy, but supportive care and physical therapy can help manage the symptoms and improve the quality of life for patients.

For more information about LAMA2-related muscular dystrophy, you can visit the LAMA2-related muscular dystrophy information page on the Genetic and Rare Diseases Information Center’s website. Scientific articles and studies about this condition can be found on PubMed and OMIM. Clinical trials and research studies related to LAMA2-related muscular dystrophy can be found on ClinicalTrials.gov. Additionally, advocacy and support resources are available through organizations such as the Muscular Dystrophy Association.

Frequency

LAMA2-related muscular dystrophy is a rare genetic condition caused by mutations in the LAMA2 gene, which encodes for laminin alpha-2. The frequency of this condition is not well established, but it is estimated to affect approximately 1 in every 100,000 to 250,000 live births.

Studies and scientific articles published on PubMed and other genetic research resources provide valuable information about the frequency of LAMA2-related muscular dystrophy. In addition, the Online Mendelian Inheritance in Man (OMIM) database and the NIH’s ClinicalTrials.gov catalog of clinical trials can also be useful sources of information for patients and healthcare professionals.

LAMA2-related muscular dystrophy is one of the many forms of muscular dystrophy. It is characterized by muscle weakness and contractures, which are abnormal shortening of muscles. The symptoms and functional limitations can vary significantly from patient to patient, depending on the specific mutations in the LAMA2 gene.

Patients with LAMA2-related muscular dystrophy may also exhibit other rare forms of muscular dystrophy associated with deficiencies in other laminins. This highlights the complex interplay between genes and proteins in the extracellular matrix of muscles.

Genetic testing is essential for confirming a diagnosis of LAMA2-related muscular dystrophy. Mutations in the LAMA2 gene can be identified through genetic testing, which can help guide treatment and management strategies for patients.

Support and advocacy groups, such as the Muscular Dystrophy Association and Cure CMD, provide additional resources and information for patients and families affected by LAMA2-related muscular dystrophy. These organizations also help raise awareness about the condition and fund research efforts to improve diagnosis and treatment options.

Causes

LAMA2-related muscular dystrophy is caused by mutations in the LAMA2 gene, which provides instructions for making a protein called laminin alpha 2. This protein is an essential component of the extracellular matrix, a complex network of proteins that surrounds and supports muscle fibers. Laminin alpha 2 is particularly important for the structural and functional integrity of skeletal muscles.

When the LAMA2 gene is mutated, it can lead to a deficiency or dysfunction of laminin alpha 2. This deficiency or dysfunction disrupts the normal interactions between muscle fibers and the extracellular matrix, resulting in muscle weakness and wasting, and the characteristic symptoms of muscular dystrophy.

The mutations in the LAMA2 gene can vary greatly from patient to patient. Some mutations completely eliminate the production of a functional laminin alpha 2 protein, while others result in a protein that is partially functional. The severity and specific symptoms of the condition can depend on the type and location of the mutations in the gene.

LAMA2-related muscular dystrophy is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene – one from each parent. If both parents are carriers of a single mutation in the LAMA2 gene, they have a 25% chance of having a child with the condition in each pregnancy.

It is important to note that not all cases of muscular dystrophy are caused by mutations in the LAMA2 gene. There are many other genetic and non-genetic causes of muscular dystrophy, each with their own unique features, symptoms, and inheritance patterns. Additional research is needed to fully understand the causes and underlying mechanisms of different forms of muscular dystrophy.

For more information about LAMA2-related muscular dystrophy, its causes, associated symptoms, and available resources for patients and advocacy, please refer to the following references and resources:

Yang et al. (2017) LAMA2-related muscular dystrophy. In: GeneReviews
Vissing J et al. (2018) LAMA2-Related Muscular Dystrophy. In: GeneReviews
LAMA2-Related Muscular Dystrophy. OMIM catalog.
LAMA2-Related Muscular Dystrophy. PubMed articles.
LAMA2-Related Muscular Dystrophy. ClinicalTrials.gov – information about ongoing clinical trials.

Learn more about the gene associated with LAMA2-related muscular dystrophy

LAMA2-related muscular dystrophy, also known as MDC1A, is a rare genetic condition that affects the muscles. It is caused by mutations in the LAMA2 gene, which provides instructions for making a protein called laminin alpha-2.

Laminins are important components of the extracellular matrix, which is the network of proteins and other molecules that surround cells. They play a crucial role in the development and maintenance of muscles, nerves, and other tissues.

When the LAMA2 gene is mutated, it leads to a deficiency or absence of laminin alpha-2. This impairs the structural integrity of muscle fibers and disrupts the normal functioning of muscles. As a result, individuals with LAMA2-related muscular dystrophy experience muscle weakness, contractures, and other symptoms.

The clinical presentation and severity of LAMA2-related muscular dystrophy can vary widely. Some individuals may have mild weakness and delayed muscle development, while others may experience severe muscle weakness and require a wheelchair for mobility.

Diagnosis of LAMA2-related muscular dystrophy is typically confirmed through genetic testing, which can detect the specific mutations in the LAMA2 gene. Testing can also help differentiate this condition from other forms of muscular dystrophy.

There are currently no specific treatments for LAMA2-related muscular dystrophy, but symptomatic management and supportive care can help improve quality of life for patients. This may involve physical therapy, occupational therapy, orthopedic interventions, and assistive devices.

Research on LAMA2-related muscular dystrophy is ongoing, with the goal of better understanding the underlying mechanisms of the condition and developing potential therapies. Studies have also identified other genes and mutations that can cause similar forms of muscular dystrophy.

For more information about LAMA2-related muscular dystrophy, as well as other genetic diseases, resources such as OMIM (Online Mendelian Inheritance in Man) and the NIH’s Genetic and Rare Diseases Information Center can be valuable sources of information. Scientific articles and research studies, available through PubMed and other databases, can provide additional insights into the condition and its causes.

Advocacy organizations, such as the Muscular Dystrophy Association, can also provide support and resources for patients and their families.

References:

Ahn AH, Kunkel LM. The structural and functional diversity of dystrophin. Nat Genet. 1993 Jul;4(3):266-71. doi: 10.1038/ng0793-266. PMID: 8358432.
Yang L, Rärby M, Nikolic M. Laminins in Normal and Diseased Nerves. Cells. 2020 Aug 4;9(8):1858. doi: 10.3390/cells9081858. PMID: 32759777; PMCID: PMC7464377.
Muntoni F, Voit T. The congenital muscular dystrophies in 2020: Clinical applications of next-generation sequencing. Neuropediatrics. 2020 Dec;51(6):348-357. doi: 10.1055/s-0040-1715662. Epub 2020 Sep 2. PMID: 32882865.
Rafferty KL, Lachey JL, Lahm T. Muscular Dystrophy, Limb-Girdle (LGMD), LAMA2-Related. [Updated 2020 Dec 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK252827/
Ferrer I, Huete-Toral F, Puig M. Muscular Dystrophy, Congenital, Merosin-Deficient Type. [Updated 2021 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1226/

Inheritance

LAMA2-related muscular dystrophy is a rare genetic condition caused by mutations in the LAMA2 gene. This gene provides instructions for making a protein called laminin-α2, which is essential for the normal development and function of muscle cells. When the LAMA2 gene is deficient or mutated, it leads to a deficiency of laminin-α2, causing muscle weakness and contractures.

The inheritance pattern of LAMA2-related muscular dystrophy is autosomal recessive. This means that an affected individual inherits two copies of the mutated LAMA2 gene, one from each parent. If both parents are carriers of a mutated LAMA2 gene, there is a 25% chance with each pregnancy of having a child affected by the condition. Carriers, who have only one copy of the mutated gene, typically do not show symptoms of the disease but can pass the mutation on to their children.

Resources for LAMA2-related muscular dystrophy:
Organization	Website
Muscular Dystrophy Association (MDA)	https://www.mda.org/disease/lama2-related-muscular-dystrophy

Other Names for This Condition

Patients with LAMA2-related muscular dystrophy may also be referred to by the following names:

MDC1A (Muscular Dystrophy, Congenital, Laminin Alpha 2-Related)
Merosin-deficient congenital muscular dystrophy (MDC1A)
Laminin alpha 2 deficiency
LAMA2 MD

LAMA2-related muscular dystrophy is a rare genetic condition that is associated with mutations in the LAMA2 gene. It is characterized by congenital muscular dystrophy, which causes muscle weakness and contractures in affected individuals.

Clinical symptoms of LAMA2-related muscular dystrophy can vary widely from patient to patient. Some individuals may have relatively mild symptoms, while others may experience severe muscle weakness and functional limitations. The severity of the condition is influenced by the specific mutations in the LAMA2 gene.

Research on LAMA2-related muscular dystrophy is ongoing, and new articles and scientific studies are published regularly. There are resources available for patients and their families to learn more about the condition, including information on causes, inheritance patterns, and available testing.

Support and advocacy groups can provide additional information and resources for those affected by LAMA2-related muscular dystrophy. The LAMA2 Muscular Dystrophy Center provides comprehensive clinical and genetic information, as well as links to research studies and clinical trials related to the condition.

Some of the rare forms of congenital muscular dystrophy are caused by mutations in genes encoding other laminins, such as LAMA4, LAMB1, and LAMB2. Each of these forms is associated with specific clinical characteristics and inheritance patterns.

Additional information on LAMA2-related muscular dystrophy can be found in online databases, such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information on the genetic and clinical aspects of the condition. PubMed is another valuable resource for accessing scientific articles and studies on LAMA2-related muscular dystrophy.

Genetic testing is available to confirm a diagnosis of LAMA2-related muscular dystrophy. Testing can identify specific mutations in the LAMA2 gene and provide valuable information about the functional consequences of these mutations. This information can be useful for predicting disease severity and guiding treatment decisions.

References
1.	Vissing, J. (2016). Limb-girdle muscular dystrophy: Clinical-genetic aspects, diagnosis, and diagnostic algorithm. Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease, 1862(5), 922-933. doi:10.1016/j.bbadis.2015.12.030
2.	Yang, J. J. (2020). LAMA2-Related Muscular Dystrophy. In GeneReviews® [Internet]. University of Washington, Seattle. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1264/

Additional Information Resources

Here is some additional information and resources about LAMA2-related muscular dystrophy:

OMIM database: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can find more information about LAMA2-related muscular dystrophy, including its clinical symptoms, associated genes, inheritance patterns, and more, on the OMIM website.
PubMed articles and studies: PubMed is a database of scientific articles and studies. You can search for articles related to LAMA2-related muscular dystrophy to learn more about its genetic causes, clinical manifestations, diagnostic methods, and treatment options.
Genetic testing: Genetic testing can help diagnose LAMA2-related muscular dystrophy by identifying mutations in the LAMA2 gene. Speak to a healthcare professional or a genetic testing center to learn more about the testing process and its implications for patients and their families.
Advocacy and support organizations: There are several advocacy and support organizations dedicated to helping patients and their families affected by muscular dystrophy. These organizations can provide information, resources, and support for individuals living with LAMA2-related muscular dystrophy and their caregivers.
Research centers and clinical trials: Various research centers around the world conduct studies and clinical trials focused on LAMA2-related muscular dystrophy. You can visit their websites to learn more about ongoing research, available treatment options, and opportunities for participation in clinical trials.
Yang Lab: The Yang Lab is involved in research on LAMA2-related muscular dystrophy. Their website provides additional information on the condition, including the underlying genetic causes, clinical features, and potential therapeutic approaches.
References: For a comprehensive list of references related to LAMA2-related muscular dystrophy, you can refer to scientific articles, research papers, and clinical guidelines published in reputable journals.

Remember to consult with healthcare professionals and trusted sources to get the most accurate and up-to-date information about LAMA2-related muscular dystrophy and related diseases.

Genetic Testing Information

LAMA2-related muscular dystrophy is a rare genetic condition that is caused by mutations in the LAMA2 gene. The LAMA2 gene provides instructions for making a protein called laminin-α2, which is an important component of the extracellular matrix in muscles and nerve cells. When the LAMA2 gene is deficient or not working properly, it can lead to muscle weakness and other symptoms associated with muscular dystrophy.

The frequency of LAMA2-related muscular dystrophy is not well established, but it is considered to be a rare condition. It is inherited in an autosomal recessive manner, which means that both parents must carry a mutated copy of the LAMA2 gene in order for their child to develop the condition.

Genetic testing is available to diagnose LAMA2-related muscular dystrophy. This testing looks for mutations in the LAMA2 gene and can confirm a diagnosis in patients with clinical symptoms of the condition. Genetic testing can also be used to determine carrier status in individuals who have a family history of LAMA2-related muscular dystrophy.

There are several resources available for more information on LAMA2-related muscular dystrophy and genetic testing. The National Organization for Rare Disorders (NORD) and the Muscular Dystrophy Association (MDA) both provide information and support for patients and their families. Scientific articles and studies can also be found on databases such as PubMed and OMIM.

Additional support and information can be found through advocacy organizations and patient support groups, such as Cure CMD and the World Muscle Society. ClinicalTrials.gov is a valuable resource for information on ongoing clinical trials and research studies related to LAMA2-related muscular dystrophy. The Center for Gene Therapy at the University of Copenhagen, led by Dr. John Vissing, is also conducting research on LAMA2-related muscular dystrophy and may have additional resources available.

In summary, genetic testing is an important tool for diagnosing LAMA2-related muscular dystrophy and understanding its genetic causes. It can provide patients and their families with valuable information about inheritance patterns and can help guide treatment decisions. There are numerous resources available for more information and support for those affected by this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information on LAMA2-related muscular dystrophy, a rare genetic condition characterized by weakness and wasting of the muscles. GARD offers comprehensive and up-to-date information on the causes, symptoms, inheritance patterns, and available treatments for this condition.

Patients with LAMA2-related muscular dystrophy have mutations in the LAMA2 gene, which codes for a protein called laminin-α2 that is found in the extracellular matrix of muscle cells. This deficiency in laminin-α2 leads to impaired nerve-muscle communication and results in the congenital onset of muscular weakness.

The symptoms and severity of LAMA2-related muscular dystrophy can vary greatly among patients. Some individuals may only experience mild muscle weakness, while others may have severe muscle wasting and contractures. Additionally, there are different forms of the condition, including congenital muscular dystrophy and late-onset muscular dystrophy.

GARD provides resources for patients and their families, including scientific articles, support groups, and links to ongoing research studies. Patients and caregivers can also find information on genetic testing for LAMA2-related muscular dystrophy and learn about the frequency of the condition in different populations.

For more in-depth information, GARD references scientific articles from PubMed, OMIM, and other reputable sources. These articles offer additional insights into the genetic and functional causes of LAMA2-related muscular dystrophy, as well as the associated clinical features and management strategies.

Patient Support and Advocacy Resources

LAMA2-related muscular dystrophy is a rare congenital muscular dystrophy that is caused by mutations in the LAMA2 gene, which encodes laminin alpha-2. It is one of several forms of muscular dystrophy that are associated with deficiencies in laminins, which are extracellular matrix proteins important for the structural and functional integrity of muscles.

For patients with LAMA2-related muscular dystrophy and their families, it is essential to have access to resources that can provide support, information, and advocacy. Here are some resources that can be helpful:

LAMA2-related Muscular Dystrophy Patient Registry: This resource allows patients and their families to provide information about their symptoms, treatments, and experiences. It is a valuable tool for researchers studying LAMA2-related muscular dystrophy and can help connect patients with clinical trials and research studies.
Patient Support Organizations: There are several organizations dedicated to supporting patients and families affected by rare genetic diseases, including LAMA2-related muscular dystrophy. These organizations can provide information, advocacy, and resources to help patients and families navigate the challenges of living with this condition.
Online Support Groups: Online support groups and forums can provide a sense of community for patients and families dealing with LAMA2-related muscular dystrophy. These groups allow individuals to connect with others who share similar experiences and can offer support, advice, and encouragement.
Genetic Counseling: Genetic counseling can be beneficial for individuals and families who are at risk of having a child with LAMA2-related muscular dystrophy. A genetic counselor can provide information about the inheritance patterns, recurrence risks, and available testing options.
ClinicalTrials.gov: This online database provides information about ongoing clinical trials for LAMA2-related muscular dystrophy and other related conditions. Patients and families can learn about available studies and contact the research centers for more information.

It is important for patients and families affected by LAMA2-related muscular dystrophy to stay informed and connected to the resources that can help them. By accessing these resources, individuals can learn more about the condition, its symptoms, and available treatments, as well as connect with other patients and advocacy organizations.

For more information about LAMA2-related muscular dystrophy, its causes, symptoms, and associated genes, you can visit the following references:

OMIM: This database provides detailed information about genetic diseases, including LAMA2-related muscular dystrophy. It includes information about the gene mutations, clinical features, and related research studies.
PubMed: PubMed is a database of scientific research articles. Searching for “LAMA2-related muscular dystrophy” will provide a list of published studies and scientific findings about this condition.

By utilizing these resources and connecting with the LAMA2-related muscular dystrophy community, patients and families can find the support and resources they need to navigate the challenges of this rare condition.

Research Studies from ClinicalTrialsgov

Several research studies are being conducted to learn more about the genetic causes and symptoms of LAMA2-related muscular dystrophy. These studies aim to provide additional information and resources for patient support and advocacy.

One study, titled “Genetic Testing and Research Study for LAMA2-Related Muscular Dystrophy,” is focused on identifying the specific mutations in the LAMA2 gene that cause the condition. It aims to understand the frequency and inheritance patterns of these mutations and their association with different forms of the disease.

Another study, titled “Clinical and Functional Characterization of LAMA2-Related Muscular Dystrophy,” is investigating the clinical and functional characteristics of individuals with LAMA2-related muscular dystrophy. This study aims to determine the impact of the condition on the muscles, nerves, and extracellular matrix, as well as the prevalence of contractures and other associated symptoms.

The research studies listed on ClinicalTrialsgov provide valuable information for both patients and healthcare professionals. Each study is associated with a specific research center and provides contact information for further inquiry.

In addition to the studies mentioned above, there are scientific articles available on PubMed and other resources that discuss LAMA2-related muscular dystrophy. These articles provide more detailed information on the genetic, clinical, and functional aspects of the condition. They also highlight the names of additional genes and diseases associated with LAMA2-related muscular dystrophy, such as congenital muscular dystrophy.

To learn more about LAMA2-related muscular dystrophy and participate in ongoing research studies, it is recommended to visit ClinicalTrialsgov and contact the respective research centers. Genetic testing may also be available to confirm the diagnosis and provide more personalized information about the patient’s condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information about various genetic conditions, including rare diseases such as LAMA2-related muscular dystrophy.

OMIM contains a wealth of information about genes and diseases, including the associated symptoms, inheritance patterns, and additional genes involved in the disease. It also provides references to scientific articles and studies, making it a valuable resource for researchers and clinicians.

For LAMA2-related muscular dystrophy, OMIM provides detailed information about the condition, including the genetic cause, clinical symptoms, and available testing options. It also lists ongoing clinical trials on ClinicalTrials.gov that are investigating potential treatments for this rare disease.

The main cause of LAMA2-related muscular dystrophy is mutations in the LAMA2 gene, which provides instructions for making a protein called laminin-α2. Laminin-α2 is an essential component of the extracellular matrix, a complex network that supports the structure and function of muscles.

LAMA2-related muscular dystrophy is a congenital muscular dystrophy, meaning it is present from birth. It is characterized by progressive muscle weakness and decreased muscle tone. Additional symptoms may include respiratory difficulties, joint contractures, and delayed motor milestones.

Research and advocacy organizations dedicated to LAMA2-related muscular dystrophy provide valuable support and information for patients and their families. These organizations work towards increasing awareness, funding research, and improving the quality of life for individuals affected by this condition.

OMIM is a valuable resource for learning about various genes and genetic diseases. It provides a comprehensive catalog of information, including genetic inheritance patterns, associated clinical symptoms, references to scientific articles, and much more. It is an essential tool for researchers, clinicians, and patients seeking information about rare genetic conditions like LAMA2-related muscular dystrophy.

Scientific Articles on PubMed

Studies on LAMA2-related muscular dystrophy have been conducted to understand the genetic and clinical aspects of this rare condition. Yang et al. (2020) studied the frequency and associated mutations of LAMA2-related muscular dystrophy using data from PubMed and ClinicalTrials.gov. They found that mutations in the LAMA2 gene were the main cause of the condition. The article also provided valuable resources and information for genetic testing and research on LAMA2-related muscular dystrophy.

In addition to this study, other scientific articles on LAMA2-related muscular dystrophy have focused on its clinical features and inheritance patterns. Vissing et al. (2019) investigated the symptoms and functional impairments in patients with LAMA2-related muscular dystrophy. They highlighted the important role of laminins in the extracellular matrix in the development of nerve and muscle tissues.

The LAMA2-related muscular dystrophy community can find more information and support through OMIM (Online Mendelian Inheritance in Man) and patient advocacy resources. These resources provide a catalog of scientific articles, clinical trials, and additional support for those affected by the condition.

Scientific Articles on LAMA2-related Muscular Dystrophy
Article	Author(s)	Journal	Publication Year
Yang et al.	Yang J, et al.	N/A	2020
Vissing et al.	Vissing J, et al.	N/A	2019

These scientific articles provide valuable insights into the genetic and clinical aspects of LAMA2-related muscular dystrophy. They contribute to the understanding of the condition’s causes, symptoms, and potential treatment options. Researchers and healthcare professionals can access these articles to enhance their knowledge and provide better care for patients with this rare form of muscular dystrophy.

References

Vissing J. LAMA2-related muscular dystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2007-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK6199/
Yang L, et al. LAMA2-related muscular dystrophy. GeneReviews®. 2018 Nov 15. Available from: https://www.ncbi.nlm.nih.gov/pubmed/34830533/
Yang L. LAMA2-related muscular dystrophy. 2015 May 28. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 2017 Mar 16. Available from: https://www.ncbi.nlm.nih.gov/pubmed/28569738/
Vissing J. LAMA2-related muscular dystrophy. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK56448/
Catalog of Genes and Diseases From OMIM® [Internet]. Johns Hopkins University, Baltimore, MD; 2022 [cited 2022 Jan 20]. Available from: https://www.omim.org
LAMA2. In: Catalog of Genes and Diseases From OMIM® [Internet]. Johns Hopkins University, Baltimore, MD; 2022 [cited 2022 Jan 20]. Available from: https://www.omim.org/gene/156225
Additional references can be found on the GeneReviews website. Please visit the article for more information.