Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differ...

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Enregistré dans:
Détails bibliographiques
Publié dans:Neuromuscul Disord
Auteurs principaux: Olivé, Montse, Armstrong, Judith, Miralles, Francesc, Pou, Adolf, Fardeau, Michel, Gonzalez, Laura, Martínez, Francesca, Fischer, Dirk, Matos, Juan Antonio Martínez, Shatunov, Alexey, Goldfarb, Lev, Ferrer, Isidre
Format: Artigo
Langue:Inglês
Publié: 2007
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5127195/
https://ncbi.nlm.nih.gov/pubmed/17418574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2007.02.009
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