Before revision: Pathogenic variants of the LAMA2 gene which lead to loss of function are accompanied by complete deficiency of laminin-alpha2 (merosin) and result in a severe clinical picture or phenotype namely early onset LAMA2 congenital muscular dystrophy type 1A or MDC1A.
After revision: Pathogenic variants of the LAMA2 gene which lead to loss of function are accompanied by complete deficiency of laminin-alpha2 (merosin) and result in a severe clinical picture or phenotype namely early onset MDC1A.