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Genetic and Rare Diseases Information Center (GARD)

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Dysferlinopathy

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Overview


Dysferlinopathies are muscular dystrophies caused by mutations in the dysferlin gene. Examples of dysferlinopathies include limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy.[1]

References

  1. Nguyen K. Phenotypic study in 40 patients with dysferlin gene mutations: High frequency of atypical phenotypes. Arch Neurol. 2007.
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General Information

  • The Muscular Dystrophy Association provides additional information on limb-girdle muscular dystrophy.
  • The Muscular Dystrophy Campaign provides a list of fact sheets on muscular dystrophy and related issues. Click on the link to learn more about the variety of fact sheets offered.
  • Genetics Home Reference (GHR) contains information on Dysferlinopathy. Click on the link to go to GHR and review the information.
  • The Jain Foundation Learning Center provides basic information on this condition.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dysferlinopathy. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Dysferlinopathy. Click on the link to go to OMIM and review these resources.