Article
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Journal of medical genetics - 1 Sept 2005
Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia V M, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni A C, Fulizio L, Broccolini A, Canki-Klain N, Comi L I, Nigro G, Angelini C, Nigro V
Abstract excerpt
BACKGROUND: The limb girdle muscular dystrophies (LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified and genetic tests are mandatory to distinguish among the forms. Mutations at the calpain 3 locus (CAPN3) cause LGMD type 2A. OBJECTIVE: To obtain unbiased information on the consequences of...
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