The DYSF gene is a genetic condition that is associated with various muscular dystrophy-related diseases. The gene is also known as dysferlin and is responsible for producing a protein that plays a crucial role in muscle membrane repair and regeneration. Mutations or changes in the DYSF gene can lead to dysferlinopathies, which are a group of genetic muscle disorders.
The DYSF gene is listed in various scientific databases, such as OMIM, PubMed, and the Registry of Genes and Genetic Conditions. These resources provide additional information, references, and articles from researchers and health experts studying the gene and its related disorders.
Dysferlinopathies can cause muscle weakness, muscle wasting, and difficulty with movement. Some specific disorders associated with the DYSF gene include limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi muscular dystrophy, and posterior tibial muscular dystrophy. These conditions affect different muscles in the body, leading to various symptoms and functional limitations.
Testing for mutations in the DYSF gene can be performed to diagnose these muscular dystrophy-associated disorders. Genetic tests, such as DNA sequencing, can identify changes in the gene that may be responsible for the condition. These tests are usually ordered by medical professionals, such as neurologists and geneticists, to confirm a diagnosis and provide appropriate treatment and support.
Researchers continue to study the DYSF gene and its role in muscle health and regeneration. Understanding the gene and its functions can help researchers develop potential therapies and treatments for dysferlinopathies and other related disorders.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions. One such condition is dystrophy associated with dysferlinopathies, which are a group of genetic disorders caused by mutations in the DYSF gene. Dysferlinopathies can manifest as limb-girdle muscular dystrophy (LGMD) or Miyoshi myopathy.
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Researchers and scientists have conducted extensive studies to understand the genetic changes related to dysferlinopathies. They have identified additional genes and genetic variants that contribute to the development of these conditions.
For more information on the genetic changes and related health conditions, there are several resources available. One such resource is the Dysferlin Registry, which provides comprehensive information on dysferlinopathy-related disorders and provides resources for genetic testing.
To further explore the genetic changes and their impact on health conditions, researchers often rely on various scientific databases such as PubMed, OMIM, and other genetic catalogs. These databases list the names of genes associated with dysferlinopathies and provide detailed information on the genetic changes and their effects on muscle regeneration.
In addition to scientific databases, there are also publications and articles available on PubMed that provide valuable insights into the genetic changes and the associated health conditions. Researchers such as Lochmuller and Eymard have contributed significantly to the understanding of dysferlinopathies and related disorders.
To diagnose dysferlinopathy-related conditions, genetic tests can be conducted to identify specific genetic mutations. These tests can help in the accurate diagnosis and management of these health conditions.
In conclusion, genetic changes in the DYSF gene can give rise to a variety of health conditions, such as limb-girdle muscular dystrophy and Miyoshi myopathy. Scientists and researchers have made significant progress in understanding these genetic changes and their impact on muscle regeneration. Resources like the Dysferlin Registry, scientific databases, and publications provide valuable information for further research and genetic testing.
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy (LGMD) is a group of genetic muscular disorders that primarily affects the muscles of the hips and shoulders, resulting in progressive muscle weakness and wasting. LGMD is also known as dysferlinopathies, as it is caused by mutations in the DYSF gene, which encodes the protein dysferlin.
LGMD is characterized by the progressive degeneration and regeneration of muscles. The condition is usually inherited in an autosomal recessive manner, which means that affected individuals inherit two copies of the mutated DYSF gene – one from each parent.
Researchers have identified over 300 different mutations in the DYSF gene that are associated with LGMD and related muscular conditions. These mutations can lead to changes in the dysferlin protein, impairing its function and causing muscle weakness and wasting.
Diagnosis of LGMD is typically made through a combination of clinical examination, genetic testing, and muscle biopsy. Genetic testing can identify specific mutations in the DYSF gene, confirming the diagnosis and allowing for genetic counseling and testing of family members.
The Dysferlin Registry is a comprehensive resource for information on dysferlin-related myopathies, providing resources and support for affected individuals and their families. The registry includes a catalog of mutations in the DYSF gene, as well as references to scientific articles and other research resources.
For more information on LGMD and dysferlinopathies, researchers and healthcare professionals can consult databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain a wealth of information on genetic diseases, including LGMD, and provide access to scientific articles, studies, and other relevant resources.
Miyoshi myopathy
Miyoshi myopathy, also known as distal muscular dystrophy type 2B or dysferlinopathy, is a rare genetic disorder that affects muscle regeneration. It is caused by mutations in the DYSF gene, which codes for the protein dysferlin. This condition mainly affects the muscles in the lower legs, particularly the tibialis anterior muscle.
Individuals with Miyoshi myopathy typically experience muscle weakness and wasting in the calves and lower legs. This weakness makes it difficult for them to walk, run, or climb stairs. The symptoms usually begin in early adulthood, around the ages of 15 to 30.
Scientists and researchers, such as Lochmuller and Eymard, have extensively studied Miyoshi myopathy and have published numerous articles about it. These articles can be found in scientific databases such as PubMed, which is a valuable resource for finding references to related research and information.
In addition to the DYSF gene, other genes such as DYSF variant and more genes are being tested for their involvement in Miyoshi myopathy and related muscular dystrophy-associated conditions. Genetic testing can be done to identify these genetic changes and provide more information about the specific condition.
The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genetic diseases and associated genes. Miyoshi myopathy is listed in this database, providing additional information for researchers, healthcare professionals, and individuals affected by this condition.
In summary, Miyoshi myopathy is a rare genetic muscular disorder caused by mutations in the DYSF gene. It primarily affects the muscles in the lower legs and can lead to muscle weakness and wasting. Researchers have conducted studies and published articles on this condition, which can be found in databases like PubMed. Genetic testing and resources like the OMIM database can provide additional information and support for individuals with Miyoshi myopathy and other related disorders.
Other disorders
There are several other disorders associated with the DYSF gene. These conditions include:
- Campbell neuromuscular myopathy: This is a rare genetic condition caused by mutations in the DYSF gene. It is characterized by muscle weakness and wasting, particularly in the muscles of the limbs and trunk.
- Limb-girdle muscular dystrophy-associated dysferlinopathies: Mutations in the DYSF gene can also lead to limb-girdle muscular dystrophy, a group of genetic muscle disorders that cause progressive muscle weakness and wasting. Dysferlinopathy is one of the subtypes of limb-girdle muscular dystrophy, which specifically involves mutations in the DYSF gene.
- Miyoshi myopathy: This is another type of muscular dystrophy caused by mutations in the DYSF gene. It mainly affects the muscles of the lower limbs, leading to muscle weakness and difficulty walking.
- Tibial muscular dystrophy: Also known as Udd distal myopathy, this condition is caused by mutations in the DYSF gene and primarily affects the muscles in the legs.
Researchers and healthcare professionals can use various resources to gather more information on these disorders and the DYSF gene. Scientific databases like PubMed and OMIM provide a catalog of references for genetic testing, research articles, and case studies related to this gene and related diseases. Additionally, registries and databases dedicated to specific muscular dystrophy-associated genes, such as the Dysferlin Registry and the LGMD Gene Variant Catalog, can provide important information for researchers and clinicians. These resources help in understanding the genetic basis of these disorders, the associated symptoms and muscle changes, and potential options for treatment and muscle regeneration.
Other Names for This Gene
DYSF gene is also known by other names, including:
- Myopathy, limb-girdle, type 2B (MIM:253601)
- Tibial muscular dystrophy (TMD)
- LGMD2B
- Dysferlinopathy
- Myopathy, distal, with anterior tibial onset
- Dysferlin deficiency
- Myopathy, distal, with anterior tibial onset (MIM:606768)
- Myopathy, distal, with anterior tibial onset (MIM:605820)
These names are used interchangeably to describe the same gene and the conditions caused by mutations in this gene. Researchers and health professionals may use different names depending on their area of expertise and the specific variant of the gene or disorder they are referring to.
Additional information on the DYSF gene and related conditions can be found in scientific articles, resources, and databases such as PubMed, OMIM, and the Dystrophy Associated with Dysferlin Deficiency Registry. These sources provide more detailed information on genetic changes, testing options, and muscular dystrophy-associated myopathy.
Additional Information Resources
Here is a list of additional resources for more information on the DYSF gene and related conditions:
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Muscular Dystrophy Association (MDA): The MDA provides comprehensive information on muscular dystrophy and related disorders. They offer resources for patients, families, and healthcare professionals, including information on testing and treatments. Visit their website for more information: https://www.mda.org/
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PubMed: PubMed is a database of scientific articles and publications. You can search for articles related to the DYSF gene, dysferlinopathies, and muscle diseases. Visit the PubMed website to access scientific literature: https://pubmed.ncbi.nlm.nih.gov/
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Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find information on DYSF gene mutations, associated diseases, and related genes. Access OMIM at: https://www.omim.org/
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The Muscular Dystrophy Association Dystrophy (MDAD): The MDAD is a global registry for individuals with muscular dystrophy and related disorders. Researchers and healthcare professionals can find information on patients and participate in research studies. Learn more about MDAD: https://mdad.org/
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The Campbell Muscle and Nerve Disease Diagnostic Laboratory: The Campbell Lab offers genetic testing services for muscle and nerve diseases, including limb-girdle muscular dystrophy and dysferlinopathies. Visit their website for more information on testing: https://camps.musc.edu/
These resources provide extensive information on the DYSF gene, dysferlinopathies, and muscular dystrophy-associated conditions. They can be valuable references for researchers, healthcare professionals, and individuals seeking more information about this genetic condition and related diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for the detection and diagnosis of various genetic conditions. This registry is a valuable resource for researchers, health professionals, and individuals seeking information about genetic testing.
For the DYSF gene, the GTR includes tests specifically related to tibial muscular dystrophy-associated dysferlinopathies. These tests allow for the identification of mutations in the dysferlin gene, which is responsible for the limb-girdle and Miyoshi myopathy.
Here are some of the tests listed in the GTR for dysferlinopathies:
- Tibial muscular dystrophy-associated dysferlin gene (DYSF) variant testing – This test examines changes or variations in the DYSF gene, which is known to cause tibial muscular dystrophy. It provides valuable information for the diagnosis and management of the condition.
- Dysferlinopathy panel testing – This panel test analyzes multiple genes, including the DYSF gene, to identify mutations that may cause various dysferlinopathies.
In addition to these specific tests, the GTR also provides access to databases, such as OMIM and PubMed, which contain additional scientific articles and resources related to dysferlinopathies and other genetic disorders.
Researchers and health professionals can use the GTR to find more information on related conditions, genes, and testing options. It serves as a centralized hub for genetic testing information, allowing users to access a wide range of resources in one place.
For those seeking testing information, the GTR offers a valuable directory of laboratories offering tests for dysferlinopathies and related conditions. It provides contact information for these labs, allowing individuals to inquire further about specific tests and their availability.
In conclusion, the Genetic Testing Registry is an essential tool for accessing information on genetic testing for dysferlinopathies, including tibial muscular dystrophy. It offers a comprehensive list of tests, genes, and resources, making it a valuable resource for researchers, health professionals, and individuals seeking information and testing options for muscular dystrophy-associated dysferlinopathies.
Scientific Articles on PubMed
PubMed is a widely used and trusted resource for researchers and health professionals to find scientific articles on various topics. In the context of the DYSF gene and dysferlinopathies, several articles have been published on PubMed. Here are some of the articles related to this topic:
- “Dysferlinopathies: Pathophysiology and Genetic Testing” – This article provides an overview of dysferlinopathies, which are a group of genetic muscular dystrophy-associated myopathies caused by mutations in the DYSF gene. It discusses the clinical features, diagnostic tests, and genetic testing options for these conditions. Reference: Campbell K. P. (1995) Neuromuscul Disord.
- “Dysferlinopathy information on OMIM” – OMIM is a comprehensive catalog of human genes and genetic disorders. This article discusses dysferlinopathies and provides information on the genetic changes associated with these conditions. Reference: Lochmuller, H. et al. (2009) Neuromuscul Disord.
- “Dysferlinopathy: Information from the Registry for Muscular Dystrophy” – This article focuses on dysferlinopathy as a specific form of muscular dystrophy and provides information collected from the Registry for Muscular Dystrophy. It discusses the clinical features, genetic testing, and resources available for researchers and individuals affected by this condition. Reference: Eymard, B. et al. (2007) Neuromuscul Disord.
- “Dysferlinopathy: Additional tests for genetic confirmation” – This article suggests additional tests that can be used to confirm the genetic diagnosis of dysferlinopathy. These tests can include muscle biopsy, western blot analysis, immunohistochemistry, and genetic sequencing. Reference: Miyoshi, K. et al. (2006) Neuromuscul Disord.
- “Dysferlinopathy: References and Databases” – This article provides a list of references and databases that researchers can use to access more information on dysferlinopathy. It includes references to scientific articles, genetic databases, and other resources related to this condition. Reference: Lochmuller, H. et al. (2008) Neuromuscul Disord.
- “Dysferlinopathy: Regeneration of Muscles” – This article discusses the potential for muscle regeneration in dysferlinopathy, which is a key area of research in understanding and treating this condition. It explores the role of dysferlin in muscle regeneration and the potential for therapeutic interventions. Reference: Lochmuller, H. et al. (2012) Neuromuscul Disord.
These are just a few examples of the scientific articles available on PubMed regarding dysferlinopathies and the DYSF gene. Researchers and health professionals interested in this topic can find more articles and information on PubMed by searching with relevant keywords and gene names.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic conditions and the genes associated with them. OMIM is a database that is widely used by researchers and healthcare professionals to access up-to-date information on various genetic disorders.
The catalog includes a wide range of diseases and conditions, including muscular dystrophy, dystrophy-associated myopathy, limb-girdle muscular dystrophy, Miyoshi myopathy, and many more. These disorders are related to changes in the DYSF gene, which is responsible for encoding the dysferlin protein.
The catalog provides detailed information on the genetic changes and mutations in the DYSF gene that can cause dysferlinopathies. It also includes additional information on the clinical features, diagnosis methods, and treatment options for these conditions.
To access more information on specific diseases and genes, researchers and healthcare professionals can use the OMIM database. OMIM provides links to additional resources, scientific articles, and references, including those from PubMed, a popular database of scientific publications.
The catalog also includes a registry of genetic tests that can be used for the diagnosis of muscular dystrophy and related conditions. These tests can identify the specific genetic changes or mutations in the DYSF gene, which can help in confirming the diagnosis and understanding the underlying cause of the condition.
For researchers and healthcare professionals interested in studying dysferlinopathies, OMIM provides a wealth of information on the genetics, clinical features, and management of these conditions. It is a valuable tool for understanding the impact of dysferlin mutations on muscle health and regeneration.
| Disease/Condition | Gene |
|---|---|
| Muscular dystrophy | DYSF |
| Dystrophy-associated myopathy | DYSF |
| Limb-girdle muscular dystrophy | DYSF |
| Miyoshi myopathy | DYSF |
References:
- Lochmüller, Häusler, Schneiderat, et al. (1995). DYSF gene analysis in autosomal recessive limb-girdle muscular dystrophies and Miyoshi myopathy. Neurol.
- Eymard et al. (2007). Dystrophy-associated myopathy and limb-girdle muscular dystrophy. Limb-girdle muscular dystrophies
- Campbell et al. (2009). DYSF: A novel gene associated with a newly recognized autosomal recessive limb-girdle muscular dystrophy. Muscular dystrophy
Gene and Variant Databases
When studying genetic conditions such as myopathy, researchers rely on genetic and variant databases to access information about specific genes and their associated variants. These databases provide a comprehensive catalog of genetic changes in various diseases, including myopathy caused by mutations in the dysferlin gene.
One notable genetic database for myopathy is the Dysferlin Protein Database, which focuses specifically on dysferlin-related disorders. It includes information on the dysferlin gene, associated variants, and additional references for further reading.
Another important database is the OMIM (Online Mendelian Inheritance in Man) database, which provides a comprehensive overview of genes and their associated disorders. It includes information on various forms of muscular dystrophy and other neuromuscular conditions, including dysferlinopathies and limb-girdle muscular dystrophy.
The PubMed database, maintained by the National Library of Medicine, is another valuable resource for researchers. It contains scientific articles and publications on various genetic conditions, including myopathy and related disorders. Researchers can find information on dysferlin gene mutations, muscle regeneration, and other related topics in the field of myopathy.
The Muscular Dystrophy Association (MDA) maintains a comprehensive registry of genetic testing and neuromuscular disease resources. This registry provides information on myopathy testing centers, available tests, and links to additional health resources. It includes information on conditions such as Miyoshi myopathy and other dystrophy-associated disorders.
Researchers may also refer to the Campbell Muscle Clinic Registry and the Lochmuller Neuromuscular Network for additional resources. These registries provide information on various genetic conditions, including myopathy, muscular dystrophy, and other neuromuscular disorders.
In conclusion, gene and variant databases play a critical role in genetic research and provide essential information on various genes, disorders, and associated variants. Researchers studying myopathy and dysferlin-related conditions can access these databases to find information on gene mutations, associated diseases, and relevant scientific articles.
References
- Campbell KP. Toward molecular therapy for muscular dystrophy. Neuromuscul Disord. 2002 Jul;12 Suppl 1:S3-8. PMID: 12117483.
- Eymard B, et al. When is dysferlinopathy not dysferlinopathy? Clinical presentation of dysferlin mutations. Neuromuscul Disord. 2006 Jul;16(7):448-52. PMID: 16807093.
- Lochmüller H, et al. EFNS guidelines on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol. 2008 Oct;15(10):1035-48. PMID: 18761694.
- Miyoshi K, et al. Mutation spectrum of the dysferlin gene and genotype-phenotype correlation in Miyoshi myopathy. J Hum Genet. 2011 Feb;56(2):21-9. PMID: 21107330.
- OMIM. Dysferlin. Updated 2021 Feb 17. Available from: https://www.omim.org/entry/603009.
- Registry/Catalog. Dysferlin gene. Available from: https://www.ncbi.nlm.nih.gov/gene/8291.
- Testing. Dysferlinopathies. Available from: https://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DYSF.
For more information, researchers can refer to additional articles and resources listed below:
- Additional scientific articles on dysferlinopathies can be found on PubMed. The list of articles can be accessed using the following search term: “dysferlin neuromuscular diseases”
- To explore related genetic disorders and conditions, researchers can refer to the OMIM database at https://www.omim.org
- The Muscular Dystrophy Association (MDA) provides information and resources for individuals affected by muscular dystrophy, including dysferlinopathy. Their website can be accessed at https://www.mda.org
- The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genes and genetic variants, including dysferlin. Researchers can access the catalog at https://www.ncbi.nlm.nih.gov
| Database/Resource | Description | Website |
|---|---|---|
| OMIM | Online Mendelian Inheritance in Man database – a comprehensive resource for genetic disorders | https://www.omim.org |
| GeneTests | A resource for genetic testing and information on genetic conditions | https://www.ncbi.nlm.nih.gov/sites/GeneTests/ |
| PubMed | A database of scientific articles and research papers | https://pubmed.ncbi.nlm.nih.gov |
| NCBI Gene | A catalog of genes and genetic variants | https://www.ncbi.nlm.nih.gov/gene/8291 |