Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical...

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical..., The autosomal recessive congenital muscular dystrophy type 1A (MDC1A) results from a variety of mutations, either missense, nonsense, deletions or splice site variants, in the LAMA2 gene [1]. The LAMA2 gene, comprising 65 exons, encodes the α2 chain subunit of laminin-2 (merosin)., The autosomal recessive congenital muscular dystrophy type 1A (MDC1A) results from a variety of mutations, either missense, nonsense, deletions or splice site variants, in the LAMA2 gene [1]. The LAMA2 gene, comprising 65 exons, encodes the α2 chain subunit of laminin-2 (merosin). Generally, complete absence of the laminin α2 chain leads to a very severe disease course, while partial deficiency results in a variety of milder phenotypes [2,3]. Accordingly, skeletal muscles of MDC1A patients show, depending on complete or partial absence of the laminin-α2 chain, either severe dystrophic features such as muscle degeneration and regeneration, inflammation, atrophy and fibrosis, or milder myopathic features [4]., admin,