Article
Dysferlin protein analysis in limb-girdle muscular dystrophies.
Journal of molecular neuroscience : MN - 1 Aug 2001
Vainzof M, Anderson L V, McNally E M, Davis D B, Faulkner G, Valle G, Moreira E S, Pavanello R C, Passos-Bueno M R, Zatz M
Abstract excerpt
Dysferlin is the protein product of the DYSF gene mapped at 2p31, which mutations cause limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. To date, nine autosomal recessive forms (AR-LGMD) have been identified: four genes, which code for the sarcoglycan glycoproteins, are associated with both mild and severe forms, the sarcoglycanopathies (LGMD2C, 2D, 2E and 2F). The other five forms, usually...
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