A novel de�novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report

Merosin deficient congenital muscular dystrophy type 1A (MDC1A) is caused by defects in the LAMA2 gene. Patients with MDC1A exhibit severe symptoms, including congenital hypotonia, delayed motor development and contractures. The present case report describes a Vietnamese male child with clinical manifestations of delayed motor development, limb‑girdle muscular dystrophy, severe scoliosis and white matter abnormality in the brain. Whole exome...