Article
LAMA2-related congenital muscular dystrophy complicated by West syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2015
Camacho Ana, Núñez Noemí, Dekomien Gabriele, Hernández-Laín Aurelio, de Aragón Ana Martínez, Simón Rogelio
Abstract excerpt
BACKGROUND: Mutations in the LAMA2 gene cause autosomal recessive laminin α2 related congenital muscular dystrophy. In patients with partial laminin α2 deficiency the phenotype is usually milder than in those with absent protein. Apart from the typical white matter abnormalities, there is an increased risk of cerebral complications such as epilepsy and mental retardation, despite a structurally normal brain....
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