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Risk assessment and genetic counseling in families with Duchenne muscular dystrophy

The Duchenne Muscular dystrophy (DMD) is the most frequent muscle disorder in childhood caused by mutations in the Xlinked dystrophin gene (about 65% deletions, about 7% duplications, about 26% point mutations and about 2% unknown mutations). The clinically milder Becker muscular dystrophy (BMD) is...

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Detalhes bibliográficos
Main Authors: GRIMM, TIEMO, KRESS, WOLFRAM, MENG, GERHARD, MÜLLER, CLEMENS R.
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore SpA 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3631803/
https://ncbi.nlm.nih.gov/pubmed/23620649
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