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].

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