Article
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2016
Medrano Sofía, Monges Soledad, Gravina Luis Pablo, Alías Laura, Mozzoni Julieta, Aráoz Hilda Verónica, Bernal Sara, Moresco Angélica, Chertkoff Lilien, Tizzano Eduardo
Abstract excerpt
BACKGROUND/PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, considered one of the leading causes of infant mortality. It is caused by mutations in the SMN1 gene. A highly homologous copy of this gene named SMN2 and other neighbouring genes, SERF1A and NAIP, are considered phenotypic modifiers of the disease. In recent years, notable advances have been made in SMA research...
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