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Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

1 Jan 2016

Abstract excerpt

BACKGROUND AND PURPOSE: Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known. This study evaluates the utility of two known founder mutations as a first-line diagnostic test for LGMD2A in the Agarwals....

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PMID: 27011640
DOI: 10.4103/0972-2327.175435

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