Article
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
Journal of medical genetics - 1 Dec 1997
Fanin M, Duggan D J, Mostacciuolo M L, Martinello F, Freda M P, Sorarù G, Trevisan C P, Hoffman E P, Angelini C
Abstract excerpt
BACKGROUND: The autosomal recessive limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscle diseases characterised by progressive proximal limb muscle weakness. Six different loci have been mapped and pathogenetic mutations in the genes encoding the sarcoglycan complex components (alpha-, beta-, gamma-, and delta-sarcoglycan) have been documented. LGMD patients affected with...
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