LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes

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 develop...

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Veröffentlicht in:	Human mutation 2018-10, Vol.39 (10), p.1314-1337
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Collaboration congenital Disease Genetic analysis LAMA2 Laminin laminin‐α2 locus‐specific database Muscular dystrophy mutation update Neonates Phenotypes Point mutation
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