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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Bibliografiske detaljer
Main Authors: Klinge, Lars, Aboumousa, Ahmed, Eagle, Michelle, Hudson, Judith, Sarkozy, Anna, Vita, Gianluca, Charlton, Richard, Roberts, Mark, Straub, Volker, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2009
Fag:
Research Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2975994/
https://ncbi.nlm.nih.gov/pubmed/19528035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2009.178038
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