LAMA2‐related myopathy: Frequency among congenital and limb‐girdle muscular dystrophies |
| |
| Authors: | Nicoline Løkken BSc Alfred Peter Born MD PhD Morten Duno PhD John Vissing MD PhD |
| |
| Institution: | 1. Copenhagen Neuromuscular Center, Copenhagen, Denmark;2. Department of Pediatrics, Rigshospitalet, University of Copenhagen, Denmark;3. Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark |
| |
| Abstract: | 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 = 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. Results: Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2‐mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively. Conclusions: This study demonstrates a wide clinical spectrum of LAMA2‐related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature. Muscle Nerve 52: 547–553, 2015 |
| |
| Keywords: | brain MRI congenital muscular dystrophy LAMA2 laminin‐α 2 limb‐girdle muscular dystrophy muscle biopsy |
|
|
