Dysferlin

Dysferlin is a protein linked with skeletal muscle repair. A defect in the dysferlin gene, chromosome location 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or forth decade of life and is charaterised by weakness and wasting of various voluntary skeletal muscles.^[1]

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The Jain Foundation Inc. is focused on finding a cure for this specific disease. The foundation is sponsoring targeted research and helping educate the patients on the importance of determining the mutations in their dysferlin gene.^[2]

References

1. ^ Leiden University Medical Center, Center for Human and Clinical Genetics - Dysferlin Retrieved 21 June 2007.
2. ^ Jain Foundation Retrieved 21 June 2007.