• About the Disease

    LGMD2B/Miyoshi Myopathy (collectively called dysferlinopathy) are rare forms of muscular dystrophy caused by mutations in the dysferlin gene. For the disease to occur both copies of the dysferlin gene must be defective (recessive inheritance).
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  • Importance of Genetic Diagnosis

    Since multiple forms of muscular dystrophy can have similar clinical symptoms, genetic analysis is the only definitive way to confirm your diagnosis. The Jain Foundation has joined a consortium of LGMD family foundations to offer free sequencing via lgmd-diagnosis.org
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  • Clinical Outcome Study

    Over 200 patients were recruited in the International Clinical Outcome Study (COS). The study is essential for finding outcomes that can be measured during clinical trials. Without good clinical outcomes, effective clinical trials cannot be performed.
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