Article
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
Muscle & nerve - 1 Oct 2015
Løkken Nicoline, Born Alfred Peter, Duno Morten, Vissing John
Abstract excerpt
INTRODUCTION: Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD). However, milder cases with a limb-girdle type muscular dystrophy (LGMD) have been described. METHODS: In this study, we assessed the frequency and phenotypic spectrum of LAMA2-related muscular dystrophy in CMD (n = 18) and LGMD2 (n =...
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