Merosin-deficient congenital muscular dystrophy

Definition:

Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Clinical manifestations include severe muscle weakness, hypotonia at birth, and high creatine kinase (CK) levels.

References:

[1]. Claudia Di Blasi, et al. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. Arch Neurol. 2005 Oct;62(10):1582-6. [Content Brief]

[2]. M D'Alessandro, et al. Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?. Hum Genet. 1999 Oct;105(4):308-13. [Content Brief]

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