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Neuromuscular disorders: genes, genetic counseling and therapeutic trials

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. W...

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Detalles Bibliográficos
Autores principales: Zatz, Mayana, Passos-Bueno, Maria Rita, Vainzof, Mariz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004840/
https://www.ncbi.nlm.nih.gov/pubmed/27575431
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0019