(1) A Heterozygous LAMA2:c.4452T>A Variant in Exon 31 of the LAMA2 Gene.
(2) A Heterozygous LAMA2:c.3494G>C Variant in Exon 24 of the LAMA2 Gene.
(i) A Heterozygous LAMA2: c.2901C>A Variant in Exon 21 of the LAMA2 Gene.
The therapeutic strategy in LAMA2 dystrophy aims at improving BM stability.
Loosing structural stability, the contracting muscle fibers start to degenerate in LAMA2 MD and trigger a cascade of secondary events, such as apoptosis/necrosis, inflammation, and fibrosis.
Merosin-deficient congenital muscular dystrophy 1A (MDC1A) resulting from mutations in the LAMA2 gene was found as the most common among all congenital muscle dystrophies, in 37.4% of 249 unrelated individuals referred to neurogenetics services .
The patient was diagnosed postmortem as having early-onset LAMA2-related muscular dystrophy based on the results of mutations in LAMA2 (including a novel nonsense mutation: c.4452T>A/p.Cys1484X) identified by Sanger sequencing in his parents.
Feng et al., "Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations," Neuromuscular Disorders, vol.