New aspects on patients affected by dysferlin deficient muscular dystrophy

Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data. The diagnosis was est...

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Detalles Bibliográficos
Autores principales: Klinge, Lars, Aboumousa, Ahmed, Eagle, Michelle, Hudson, Judith, Sarkozy, Anna, Vita, Gianluca, Charlton, Richard, Roberts, Mark, Straub, Volker, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2009
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975994/
https://www.ncbi.nlm.nih.gov/pubmed/19528035
http://dx.doi.org/10.1136/jnnp.2009.178038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975994/
https://www.ncbi.nlm.nih.gov/pubmed/19528035
http://dx.doi.org/10.1136/jnnp.2009.178038

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