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Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the muscles and the heart. It is named after the two doctors who first described it in the 1960s: Alan Emery and Fritz Dreifuss. Patients with EDMD often experience muscle contractures, which limit their movement and can cause significant disability.

Research studies have been conducted to learn more about the causes of EDMD. Most cases are caused by mutations in certain genes that are associated with the structure and function of the muscle cells and the nucleus. The X-linked form of the condition is the most common, although other inherited forms have also been identified.

Genetic testing can be done to confirm a diagnosis of EDMD and to identify the specific gene mutation. Additional resources, such as articles and support groups, are available for patients and their families to learn more about this condition and to receive advocacy and support.

Frequency

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the neuromuscular system. It is estimated to have a prevalence of 1 in 100,000 individuals worldwide.

EDMD is most often inherited in an X-linked recessive manner, although there are other forms of inheritance as well, including autosomal dominant and autosomal recessive inheritance. The X-linked form of EDMD is the most common, accounting for approximately 50-60% of cases.

Researchers have identified mutations in several genes that can cause EDMD, including the genes EMD, LMNA, and FHL1. These genes are involved in the function of the nuclear envelope, which plays a crucial role in the movement and positioning of muscles. Mutations in these genes can disrupt the normal function of the nuclear envelope, leading to the symptoms associated with EDMD.

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EDMD is characterized by muscle weakness and wasting, joint contractures, and cardiac abnormalities. The most commonly observed cardiac abnormality is a slow and irregular heartbeat (cardiac conduction defect). Many individuals with EDMD develop heart problems at an early age, often requiring pacemaker implantation.

Although EDMD is a rare disease, there are resources available for patients and their families. Advocacy organizations such as the Muscular Dystrophy Association (MDA) provide information and support for individuals with EDMD and their families. Additionally, there are research studies and clinical trials available for patients to participate in, which may provide additional information and potential treatments for the disease.

References:

Causes

The Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in genes that are involved in the structure and function of the nucleus, particularly in the nuclear envelope. The X-linked form of EDMD is caused by mutations in the EMD gene, while autosomal dominant and recessive forms of the condition are caused by mutations in the LMNA and FHL1 genes, respectively.

Mutations in these genes lead to abnormalities in the proteins they encode, resulting in the dysfunction of the nuclear envelope. This dysfunction affects the movement and organization of the nucleus within muscle cells and contributes to the development of the characteristic symptoms of EDMD, such as muscle weakness, contractures, and heart rhythm abnormalities.

Although these three genes are the main known causes of EDMD, other genetic and environmental factors may also play a role in the development and progression of the condition. Researchers continue to investigate additional genes that may be associated with EDMD, as well as the influence of environmental factors on disease risk and severity.

The inheritance pattern of EDMD depends on the specific genetic mutation involved. The X-linked form is inherited in a recessive manner, while the autosomal dominant and recessive forms can be inherited in a dominant or recessive manner, respectively.

While EDMD is considered a rare condition, its prevalence is not well-established. The frequency of the condition varies among different populations and more studies are needed to determine its true prevalence. Resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed provide information on the genetic basis and clinical features of EDMD, as well as the latest scientific research and clinical trials.

Genetic testing is available for individuals suspected to have EDMD, which can help confirm the diagnosis and identify the specific genetic mutation causing the condition. In addition, genetic counseling and support from patient advocacy groups can provide valuable information and resources for individuals and families affected by EDMD.

Learn more about the genes associated with Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that primarily affects the muscles and can also affect the heart. It is an x-linked inherited condition, meaning that the mutated gene responsible for causing the disease is located on the x chromosome.

Scientific research has been conducted to better understand the genetic basis of EDMD. This research has identified several genes that are associated with the condition.

One of the main genes associated with EDMD is called EMD, which stands for emerin. The emerin gene is responsible for producing a protein that plays a crucial role in the structure and function of the nucleus of muscle cells. Mutations in the EMD gene can lead to the development of EDMD.

Another gene associated with EDMD is called LMNA, which stands for lamin A/C. Mutations in the LMNA gene are known to cause a type of EDMD called EDMD2. The LMNA gene provides instructions for producing lamin A and lamin C proteins, which are also important for maintaining the structure of the nucleus. Mutations in the LMNA gene can disrupt the normal function of these proteins, leading to the development of EDMD2.

Although the EMD and LMNA genes are the most commonly known genes associated with EDMD, other genes have also been found to play a role in the development of the condition. Researchers continue to study these genes to gain a deeper understanding of the genetic mechanisms underlying EDMD.

Genetic testing can be used to identify mutations in the genes associated with EDMD. This testing can provide important information for both diagnosis and prognosis. It can also help to determine the likelihood of passing the condition on to future generations.

For individuals with EDMD, genetic research and advocacy organizations provide valuable resources and support. These organizations help to raise awareness about the condition and fund research aimed at finding new treatments and improving patient care.

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Individuals interested in learning more about EDMD and the genes associated with the condition can visit websites such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov. These websites contain a wealth of information about EDMD, including information on current research studies and clinical trials.

In summary, Emery-Dreifuss muscular dystrophy is a rare inherited disorder characterized by muscle weakness and contractures. The condition is caused by mutations in genes such as EMD and LMNA, which function in the maintenance of the nucleus of muscle cells. Genetic testing and resources from research and advocacy organizations can provide individuals with more information about this condition.

Inheritance

Emery-Dreifuss muscular dystrophy (EDMD) is a rare group of disorders that are inherited in an autosomal dominant or X-linked recessive manner. Inheritance patterns can vary between different types of EDMD.

The prevalence of EDMD is not well known, as it is a rare condition. According to scientific research, the prevalence of EDMD is estimated to be around 1 in 100,000 individuals. Although rare, EDMD has been associated with several genes that are involved in the function of the nuclear envelope, which is a structure that surrounds the nucleus in cells.

In patients with EDMD, mutations in certain genes disrupt the normal movement and function of muscles. The most common type of EDMD is called X-linked EDMD, which is caused by mutations in the emerin gene located on the X chromosome.

More information about the genetics of EDMD can be found on the OMIM catalog, a comprehensive resource for genetic information. The OMIM catalog provides detailed information on the genes associated with EDMD and the specific mutations that cause the condition.

In addition to the OMIM catalog, there are several other resources available for those seeking more information or support for EDMD. The Muscular Dystrophy Association (MDA) and the Center for Duchenne & Becker Muscular Dystrophy are two organizations that provide advocacy and support for individuals with EDMD and other muscular dystrophies.

Research studies and clinical trials are also being conducted to better understand the genetic causes and clinical features of EDMD. These studies can be found on websites such as PubMed and ClinicalTrials.gov.

Inheritance patterns of EDMD can lead to certain clinical features, such as joint contractures and heart problems. Each type of EDMD may have its own specific set of symptoms and complications. Therefore, it is important for individuals with EDMD and their families to seek genetic counseling and genetic testing to understand the specific inheritance pattern and potential risks associated with their condition.

Overall, while EDMD is a rare condition, scientific research and advocacy organizations are working to provide more information and support for individuals with this disease.

Other Names for This Condition

Emery-Dreifuss muscular dystrophy is a rare genetic condition that affects the muscles. It has been associated with various other names, including:

  • Emery-Dreifuss syndrome
  • Emery-Dreifuss muscular dystrophy syndrome
  • EDMD
  • Muscular dystrophy, Emery-Dreifuss type

These different names are used interchangeably to refer to the same condition.

The prevalence of Emery-Dreifuss muscular dystrophy is not well-documented, as it is a rare disorder. However, it is estimated to affect approximately 1 in 100,000 individuals.

Emery-Dreifuss muscular dystrophy is primarily inherited in an X-linked manner, which means that the condition is more common in males. However, there is also an autosomal dominant form of the condition, which can be inherited from either parent. In rare cases, Emery-Dreifuss muscular dystrophy can also be caused by a de novo mutation, meaning that the mutation is not inherited from either parent.

Researchers have identified mutations in several genes that are associated with Emery-Dreifuss muscular dystrophy, including EMD, LMNA, FHL1, SYNE1, and SYNE2. These genes are involved in the structure and function of the nuclear envelope, which is important for maintaining the shape and stability of cells. Mutations in these genes can lead to abnormalities in muscle function, resulting in the symptoms associated with Emery-Dreifuss muscular dystrophy.

For more information about the causes and types of Emery-Dreifuss muscular dystrophy, researchers and patients can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man)
  • ClinicalTrials.gov
  • PubMed

These resources provide references to scientific articles, clinical trials, and other research studies on Emery-Dreifuss muscular dystrophy and associated disorders. Genetic testing is available to confirm a diagnosis of Emery-Dreifuss muscular dystrophy and identify the specific gene mutation present in each patient.

Advocacy and neuromuscular organizations also provide information and resources for individuals and families affected by Emery-Dreifuss muscular dystrophy. These organizations can help patients learn more about the condition, find support, and access genetic testing resources.

Overall, the various names associated with Emery-Dreifuss muscular dystrophy, along with the resources and research studies available, contribute to a better understanding of this rare condition and help improve the care and management of affected individuals.

Additional Information Resources

Emery-Dreifuss muscular dystrophy is a rare genetic disorder that affects the muscles and the heart. It is inherited in an X-linked manner, meaning that it mainly affects males. There are three main types of Emery-Dreifuss muscular dystrophy: EDMD1, EDMD2, and EDMD3. Each type is caused by mutations in different genes.

There are several resources available for patients, researchers, and healthcare professionals to learn more about Emery-Dreifuss muscular dystrophy and other related disorders. These resources provide information on the clinical features, genetic testing, prevalence, and support for individuals and families affected by these diseases.

  • Emery-Dreifuss Muscular Dystrophy Information Center: This center provides comprehensive information on Emery-Dreifuss muscular dystrophy, including its signs and symptoms, genetic inheritance, and treatment options. It also offers resources for individuals and families affected by the disease.
  • ClinicalTrials.gov: This website provides information on ongoing clinical trials related to Emery-Dreifuss muscular dystrophy. These studies aim to investigate new treatments and interventions for the disease and offer opportunities for patients to participate in research.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases, including Emery-Dreifuss muscular dystrophy. Their website offers information on the disease, research updates, and support groups.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare genetic diseases, including Emery-Dreifuss muscular dystrophy. Their website offers resources on genetic testing, diagnosis, treatment options, and support services.
  • References and Scientific Catalogs: Researchers can access scientific publications and catalogs that provide information on the genes and mutations associated with Emery-Dreifuss muscular dystrophy. These resources can help in understanding the underlying genetic causes of the disease and in developing potential treatments.

Although Emery-Dreifuss muscular dystrophy is a rare disorder, researchers and advocacy groups are actively working to learn more about the disease and develop new treatments. By accessing these additional information resources, individuals can stay updated on the latest research and support opportunities for Emery-Dreifuss muscular dystrophy and related disorders.

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Genetic Testing Information

Inherited neuromuscular disorders such as Emery-Dreifuss muscular dystrophy (EDMD) can be caused by mutations in specific genes. Genetic testing plays a crucial role in diagnosing and understanding the condition. Here, we provide information about genetic testing resources and research available for EDMD patients and their families.

Understanding the Genetic Basis of Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy is associated with mutations in various genes. The most common form of EDMD, known as EDMD1, is caused by mutations in the emerin gene. Another form, known as EDMD2, is caused by mutations in the gene encoding for lamin A/C. The less common form, EDMD3, is associated with mutations in the SYNE1 gene. Researchers have also found mutations in other genes that can cause EDMD, although these are rarer.

Genetic Testing Resources

Several resources are available for individuals seeking genetic testing for EDMD. These resources include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides detailed information about each gene, including their functions and associated diseases. Patients and healthcare professionals can access OMIM to learn more about the genes and mutations associated with EDMD.
  • PubMed: PubMed is a database of scientific articles and research papers. Researchers and clinicians can search for articles related to EDMD, including those discussing the genetic basis of the condition. PubMed can provide valuable information on the latest research findings and advancements in the field.
  • Genetic Testing Centers: Several genetic testing centers offer testing for EDMD and other genetic disorders. These centers utilize different techniques, such as DNA sequencing, to identify mutations in the relevant genes.
  • Genetic Advocacy Organizations: Various advocacy organizations provide information and support for individuals with EDMD and their families. These organizations often have resources on genetic testing, including guidance on how to navigate the testing process and access appropriate healthcare services.

The Importance of Genetic Testing

Genetic testing is essential for diagnosing Emery-Dreifuss muscular dystrophy and understanding its underlying genetic cause. It can help identify the specific genes and mutations responsible for the condition, allowing for more accurate diagnosis and appropriate management strategies. Genetic testing also plays a crucial role in family planning and genetic counseling by providing information about the inheritance patterns and recurrence risks.

Clinical Trials and Additional Research

Researchers are continually conducting studies and clinical trials to further understand Emery-Dreifuss muscular dystrophy and develop potential treatments. Patients and their families can find information about ongoing clinical trials on the clinicaltrialsgov website. Participation in these trials can provide opportunities for accessing experimental therapies and contributing to scientific advancements.

References

  1. Emery AEH, Dreifuss FE. Unspecified (5/2/1999). Emery-Dreifuss Muscular Dystrophy 15; 1033-1053. PMID: 2030152.
  2. Pelosini C, Villanova M. Emery-dreifuss muscular dystrophy. [Updated 2021 Feb 21]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537020/. PMID: 31424875.

Please note that the information provided here is for educational purposes only and should not substitute professional medical advice. Consult a healthcare professional for personalized guidance and information about genetic testing for Emery-Dreifuss muscular dystrophy.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for information about Emery-Dreifuss muscular dystrophy (EDMD) and other rare diseases. GARD provides reliable and up-to-date information about the prevalence, causes, inheritance patterns, and clinical manifestations of various genetic disorders. They also offer resources for patients and families, including advocacy groups, support networks, and information about ongoing clinical trials.

Emery-Dreifuss muscular dystrophy is a rare type of muscular dystrophy that primarily affects the muscles and movement. It is characterized by muscle weakness, contractures (joint stiffness), and a progressive loss of muscle function. In some cases, it can also affect the heart, causing issues with heartbeat and cardiac function.

EDMD is caused by mutations in certain genes that are involved in the structure and function of the nuclear envelope, a membrane surrounding the nucleus of cells. These genetic mutations can disrupt the normal functioning of the neuromuscular system, leading to the symptoms observed in individuals with EDMD.

The prevalence of EDMD is relatively low, with only a small number of cases reported worldwide. The condition can be inherited in an X-linked or autosomal dominant manner, depending on the specific genetic mutation involved. GARD provides detailed information about the genetics and inheritance patterns of EDMD, including links to scientific articles and resources for genetic testing.

Although EDMD is a rare disease, GARD offers comprehensive information about this condition, including symptoms, diagnosis, treatment, and management strategies. They also provide links to additional resources and organizations specializing in muscular dystrophy and related disorders.

For those interested in learning more about Emery-Dreifuss muscular dystrophy, GARD is a valuable source of scientific information and practical resources. Their website is user-friendly and easily navigable, with references and links to OMIM, PubMed, and other reputable sources. Whether you are a healthcare professional, a patient, or a family member seeking support and information, GARD can help you better understand this rare and complex genetic disorder.

Patient Support and Advocacy Resources

Emery-Dreifuss muscular dystrophy is a rare neuromuscular disorder that is associated with certain types of genetic mutations. It is characterized by muscle weakness and wasting, joint contractures, and cardiac involvement. Although rare, there are resources available to support patients and their families affected by this condition.

One valuable resource is the Emery-Dreifuss Muscular Dystrophy Center at [insert center name]. This center specializes in research and studies related to Emery-Dreifuss muscular dystrophy and provides information on the latest scientific advancements in the field. Patients and their families can learn more about the disorder, its causes, and available treatment options through this center.

For those looking for support and information on Emery-Dreifuss muscular dystrophy, one useful resource is the Muscular Dystrophy Association (MDA). MDA is a well-established advocacy organization that provides resources and support for individuals and families affected by various types of muscular dystrophy. They offer support groups, educational materials, and connections to specialists who can provide additional assistance with managing the condition.

Genetic testing is an important step in the diagnosis of Emery-Dreifuss muscular dystrophy. This testing can identify the specific genes associated with the condition and determine if it is inherited in an X-linked or autosomal dominant manner. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic basis of Emery-Dreifuss muscular dystrophy, including the names of specific genes and their associated mutations.

ClinicalTrials.gov is another valuable resource for individuals with Emery-Dreifuss muscular dystrophy. This website provides information on ongoing clinical trials studying the condition and its treatment. Patients and their families can search for trials that are currently recruiting participants and may offer new treatment options or opportunities to contribute to research efforts.

In addition to these resources, there are many online articles and scientific publications available that provide further information on Emery-Dreifuss muscular dystrophy. These articles can be found through medical research databases or by searching reputable websites specializing in muscular dystrophy research.

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Overall, while Emery-Dreifuss muscular dystrophy is a rare and complex condition, there are patient support and advocacy resources available to help individuals and families navigate its challenges. By utilizing these resources, patients can access valuable information, connect with others facing similar experiences, and contribute to ongoing research efforts.

Research Studies from ClinicalTrials.gov

  • Researchers are conducting various studies to learn more about Emery-Dreifuss muscular dystrophy and its associated symptoms.
  • These studies aim to support the development of potential treatments and therapies for patients with Emery-Dreifuss muscular dystrophy.
  • Some studies focus on understanding the causes of Emery-Dreifuss muscular dystrophy and the genetic mutations that contribute to the condition.
  • Other studies investigate the frequency and prevalence of Emery-Dreifuss muscular dystrophy in different populations.
  • Scientists are also studying the function of specific genes and cells in relation to Emery-Dreifuss muscular dystrophy.
  • Research has shown that Emery-Dreifuss muscular dystrophy is primarily caused by mutations in the genes associated with nuclear envelope proteins.
  • Although Emery-Dreifuss muscular dystrophy is a rare condition, these research studies provide valuable information about the disorder.
  • Patients and their families can find additional resources and support at genetic information centers, advocacy organizations, and patient support groups.
  • Scientific articles and references related to Emery-Dreifuss muscular dystrophy can be found on PubMed and OMIM.
  • ClinicalTrials.gov, a research database, provides information on ongoing clinical trials investigating potential treatments and therapies for Emery-Dreifuss muscular dystrophy.
  • Researchers aim to identify new genetic mutations and explore potential treatment options for Emery-Dreifuss muscular dystrophy.
  • Through these research studies, scientists hope to improve the understanding of Emery-Dreifuss muscular dystrophy and develop more effective treatments for patients.

Overall, research on Emery-Dreifuss muscular dystrophy is essential for advancing our knowledge of this condition and improving the lives of individuals affected by it. By studying the genetics, movement disorders, and heart function associated with this condition, researchers hope to develop new therapies and treatment options that can effectively manage the symptoms and improve the quality of life for patients.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. This resource provides valuable information on various diseases and the associated genes responsible for their inheritance.

Many genetic disorders, including Emery-Dreifuss muscular dystrophy, are caused by mutations in specific genes. These mutations can affect the function of proteins involved in maintaining the structure and function of the cell nucleus.

Each gene listed in the catalog is associated with a specific disease or group of diseases. The catalog includes references to scientific articles, studies, and other resources that support each gene-disease association.

Emery-Dreifuss muscular dystrophy is a rare genetic condition characterized by muscle weakness and contractures, especially in the calves, elbows, and Achilles tendons. It can also affect the heart, causing abnormalities in the heartbeat.

Although certain genes have been identified as the cause of Emery-Dreifuss muscular dystrophy, more research is needed to fully understand the genetic basis of this condition. Genetic testing can support the diagnosis of this X-linked genetic disorder.

Researchers and advocacy groups are making efforts to study the genes associated with Emery-Dreifuss muscular dystrophy and other genetic disorders. Clinical trials are ongoing to learn more about the prevalence, inheritance patterns, and potential treatments for this condition.

For more information about Emery-Dreifuss muscular dystrophy and other related diseases, you can refer to the OMIM catalog. Additional scientific articles can be found on PubMed.

  1. Learn about Emery-Dreifuss muscular dystrophy and its genetic cause – OMIM
  2. Find more research and resources on Emery-Dreifuss muscular dystrophy – OMIM
  3. Support and advocacy for Emery-Dreifuss muscular dystrophy patients – OMIM
  4. Search for clinical trials related to Emery-Dreifuss muscular dystrophy – ClinicalTrials.gov

Scientific Articles on PubMed

Emery-Dreifuss muscular dystrophy is a rare genetic disorder that affects the muscles and heart. It is inherited in an X-linked fashion, meaning it primarily affects males and is passed down from mothers who carry the mutated gene. This condition is characterized by muscle weakness and wasting, contractures that restrict movement in certain joints, and heart abnormalities.

Researchers have identified several genes associated with Emery-Dreifuss muscular dystrophy, including EMD, LMNA, and FHL1. Mutations in these genes disrupt the function of proteins involved in maintaining the structure and function of the nucleus and muscle cells. These mutations can cause the muscle cells to become more fragile, leading to muscle wasting and weakness.

There are several resources available for learning more about Emery-Dreifuss muscular dystrophy. The Muscular Dystrophy Association (MDA) and the National Institute of Neurological Disorders and Stroke (NINDS) both provide information on the prevalence, symptoms, and treatment options for this condition. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are also valuable resources for accessing scientific articles on Emery-Dreifuss muscular dystrophy.

ClinicalTrials.gov is another useful resource for finding ongoing clinical trials related to Emery-Dreifuss muscular dystrophy. These trials may investigate potential treatments, gene therapies, or other interventions aimed at improving the quality of life for patients with this condition.

Advocacy organizations such as the Muscular Dystrophy Association and Parent Project Muscular Dystrophy provide support and resources for individuals and families affected by Emery-Dreifuss muscular dystrophy. These organizations can offer guidance on managing the symptoms of the disorder, connecting with other families, and accessing appropriate medical care.

In conclusion, Emery-Dreifuss muscular dystrophy is a rare genetic disorder that affects the muscles and heart. It is caused by mutations in genes that are involved in maintaining the structure and function of muscle cells and the nucleus. There are several resources and research studies available to learn more about this condition and to pursue potential treatments and interventions.

References

1. Emery-Dreifuss Muscular Dystrophy Fact Sheet. (n.d.). Muscular Dystrophy Association (MDA). Retrieved from https://www.mda.org/disease/emery-dreifuss-muscular-dystrophy

2. Emery-Dreifuss Muscular Dystrophy. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/5261/emery-dreifuss-muscular-dystrophy

3. Emery-Dreifuss Muscular Dystrophy. (n.d.). Muscular Dystrophy UK. Retrieved from https://www.musculardystrophyuk.org/downloads/3187_emery-dreifuss_muscular_dystrophy.pdf

4. Emery-Dreifuss Muscular Dystrophy. (n.d.). NORD (National Organization for Rare Disorders). Retrieved from https://rarediseases.org/rare-diseases/emery-dreifuss-muscular-dystrophy/

5. Emery-Dreifuss Muscular Dystrophy. (n.d.). NIH: Genetic and Rare Diseases Information Center. Retrieved from https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy

6. Emery-Dreifuss Muscular Dystrophy. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Emery-Dreifuss+Muscular+Dystrophy

7. Morris, G. E. (2000). The Envelope Emerges: Clues to the Pathogenesis of Emery-Dreifuss Muscular Dystrophy. European Journal of Human Genetics, 8(4), 193–200. Retrieved from https://www.nature.com/articles/5200461

8. Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., … Toniolo, D. (1994). Identification of a Novel X-Linked Gene Responsible for Emery-Dreifuss Muscular Dystrophy. Nature Genetics, 8(4), 323–327. Retrieved from https://www.nature.com/articles/ng1294-323

9. Bonne, G., Leturcq, F., Ben Yaou, R., & Kaplan, J.-C. (2006). Emery-Dreifuss Muscular Dystrophy, X-linked. In P. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, T. D. Bird, C.-T. Fong, G. E. Graham, T. C. Mefford, R. J. H. Smith, & K. Stephens (Eds.), GeneReviews®. Seattle (WA): University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1436/

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