Article
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Human mutation - 1 Oct 2018
Oliveira Jorge, Gruber Angela, Cardoso Márcio, Taipa Ricardo, Fineza Isabel, Gonçalves Ana, Laner Andreas, Winder Thomas L, Schroeder Jocelyn, Rath Julie, Oliveira Márcia E, Vieira Emília, Sousa Ana Paula, Vieira José Pedro, Lourenço Teresa, Almendra Luciano, Negrão Luís, Santos Manuela, Melo-Pires Manuel, Coelho Teresa, den Dunnen Johan T, Santos Rosário, Sousa Mário
Abstract excerpt
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...
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