Novel LAMA2 gene mutations associated with merosin-deficient congenital muscular dystrophy

ABSTRACT

Background: Merosin-deficient congenital muscular dystrophy [MDC1A] is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated levels of creatine kinase, and normal magnetic resonance imaging before the age of six months