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Translational Research and Therapeutic Perspectives in Dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) an...

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Bibliografiska uppgifter
Huvudupphovsmän: Barthélémy, Florian, Wein, Nicolas, Krahn, Martin, Lévy, Nicolas, Bartoli, Marc
Materialtyp: Artigo
Språk:Inglês
Publicerad: ScholarOne 2011
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3188867/
https://ncbi.nlm.nih.gov/pubmed/21556485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2011.00084
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