Merosin-Deficient Congenital Muscular Dystrophy Type 1A

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the LAMA2 gene. It is characterized by severe hypotonia, muscle weakness, elevated levels of serum creatinine kinase, and white matter abnormalities.

**Synonyms:** - MDC1A