Article
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Human mutation - 1 Jul 2004
Fanin M, Fulizio L, Nascimbeni A C, Spinazzi M, Piluso G, Ventriglia V M, Ruzza G, Siciliano G, Trevisan C P, Politano L, Nigro V, Angelini C
Abstract excerpt
Limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a muscle specific protease. While a large number of CAPN3 gene mutations have already been described in calpainopathy patients, the diagnosis has recently shifted from molecular genetics towards biochemical assay of defective protein. However, an estimate of sensitivity and specificity of...
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