López-Hernández, Luz B

[Genotype-phenotype discordance in a Duchenne muscular dystrophy patient due to a novel mutation: insights into the shock absorber function of dystrophin]. [electronic resource] - Revista de neurologia Jun 2011 - 720-4 p. digital

Publication Type: Case Reports; English Abstract; Journal Article; Research Support, Non-U.S. Gov't

1576-6578


Child
Child, Preschool
DNA Mutational Analysis
Dystrophin--genetics
Genetic Association Studies
Genotype
Humans
Infant
Muscular Dystrophy, Duchenne--genetics
Mutation
Phenotype