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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-...

Oliveira, J; Gruber, A; Cardoso, M; Taipa, R; Fineza, I; Gonçalves, A; Laner, A; Winder, TL; Schroeder, J; Rath, J; Oliveira, ME; Vieira, E; Sousa, AP

Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. The phenotype associated with LAMA2 de...

Date: 2018   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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