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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neuromuscul Disord
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2007
Gaiak:
Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak