Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
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DOI: 10.1002/jcla.23930
Abstract: BACKGROUND Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense… read more here.
Keywords: merosin; congenital muscular; muscular dystrophy; lama2 gene ... See more keywords