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Article

A heterozygous 21-bp deletion in<i>CAPN3</i>causes dominantly inherited limb girdle muscular dystrophy

3 Jun 2016

Abstract excerpt

Limb girdle muscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide. Although strict recessive inheritance is assumed, patients carrying a single mutation in the calpain 3 gene (CAPN3) are reported. Such findings are commonly attributed to incomplete mutation screening. In this investigation, we report 37 individuals (age range: 21-85 years, 21 females and 16 males) from 10...

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PMID: 27259757
DOI: 10.1093/brain/aww133

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