Article
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.
Neuromuscular disorders : NMD - 1 Dec 2003
Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia M C, Sironi M, D'Angelo M G, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi G P
Abstract excerpt
Dysferlin, the protein product of the dysferlin gene (DYSF), has been shown to have a role in calcium-induced membrane fusion and repair. Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle muscular dystrophy type 2B (LGMD-2B), Miyoshi myopathy (MM) and distal anterior compartment myopathy. To date, less than 45 mutations have been described in DYSF...
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