Description:
<jats:title>ABSTRACT</jats:title><jats:p><jats:italic>Introduction</jats:italic>: Muscular dystrophy caused by <jats:italic>LAMA2‐</jats:italic>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. <jats:italic>Methods</jats:italic>: In this study, we assessed the frequency and phenotypic spectrum of <jats:italic>LAMA2</jats:italic>‐related muscular dystrophy in CMD (<jats:italic>n</jats:italic> = 18) and LGMD2 (<jats:italic>n</jats:italic> = 128) cohorts identified in the last 15 years in eastern Denmark. The medical history, brain‐MRI, muscle pathology, muscle laminin‐α2 expression, and genetic analyses were assessed. <jats:italic>Results</jats:italic>: Molecular genetics revealed 2 pathogenic <jats:italic>LAMA2</jats:italic> mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a <jats:italic>LAMA2‐</jats:italic>mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively. <jats:italic>Conclusions</jats:italic>: This study demonstrates a wide clinical spectrum of <jats:italic>LAMA2</jats:italic>‐related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that <jats:italic>LAMA2</jats:italic> muscular dystrophy should be included in the LGMD2 nomenclature. <jats:italic>Muscle Nerve</jats:italic> 52: 547–553, 2015</jats:p>