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	Provedor de dados Genet. Mol. Biol. (1) Autor Passos-Bueno,Maria Rita (1) Vainzof,Mariz (1) Zatz,Mayana (1) Palavra-chave Genetic counseling (1) Genetic diseases (1) Neuromuscular disorders (1) Stem cells (1) Therapies (1) Tipo do documento Info:eu-repo/semantics/article (1) Ano 2016 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última Neuromuscular disorders: genes, genetic counseling and therapeutic trials Genet. Mol. Biol. Zatz,Mayana; Passos-Bueno,Maria Rita; Vainzof,Mariz. Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies... Tipo: Info:eu-repo/semantics/article Palavras-chave: Genetic diseases; Genetic counseling; Neuromuscular disorders; Stem cells; Therapies. Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300339 Registros recuperados: 1 Primeira ... 1 ... Última

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