Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis

Advances in the molecular characterisation of genetic muscle disease has been rapid, as demonstrated by a recent analysis of these conditions in the north of England by Norwood et al (2009), in which a genetic diagnosis was achieved for 75.7% of patients. However, there remain many patients with sus...

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Detalles Bibliográficos
Autores principales: Harris, Elizabeth, Laval, Steve, Hudson, Judith, Barresi, Rita, De Waele, Liesbeth, Straub, Volker, Lochmüller, Hanns, Bushby, Kate, Sarkozy, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682761/
https://www.ncbi.nlm.nih.gov/pubmed/23788081
http://dx.doi.org/10.1371/currents.md.37f840ca67f5e722945ecf755f40487e

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