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Next generation sequencing in neuromuscular diseases

PURPOSE OF REVIEW: Neuromuscular diseases are clinically and genetically heterogeneous and probably contains the greatest proportion of causative Mendelian defects than any other group of conditions. These disorders affect muscle and/or nerves with neonatal, childhood or adulthood onset, with signif...

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Detalhes bibliográficos
Publicado no:Curr Opin Neurol
Main Authors: Efthymiou, S, Manole, A, Houlden, H
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5082606/
https://ncbi.nlm.nih.gov/pubmed/27588584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/WCO.0000000000000374
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