Article
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.
Human mutation - 1 Mar 2000
Pogoda T V, Krakhmaleva I N, Lipatova N A, Shakhovskaya N I, Shishkin S S, Limborska S A
Abstract excerpt
Autosomal recessive limb gird muscular dystrophy (LGMD2) is a clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of the proximal limb muscles. At least eight genetic loci leading to LGMD2 are recognized. The proportion of particular gene involved in producing different forms of LGMD2 shows a marked geographical variation. We studied 19 LGMD2...
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