Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

• Main Authors: Youssef El Kadiri (Author), Ilham Ratbi (Author), Fatima Zahra Laarabi (Author), Yamna Kriouile (Author), Abdelaziz Sefiani (Author), Jaber Lyahyai (Author)
• Format: Book
• Published: BMC, 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain. It is the most frequent subtype of congenital muscular dystrophies (CMDs) characterized...