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Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

Centronuclear myopathies (CNM) are congenital disorders associated with muscle weakness and abnormally located nuclei in skeletal muscle. An autosomal dominant form of CNM results from mutations in the gene encoding dynamin 2 (DNM2), and loss-of-function mutations in the gene encoding myotubularin (...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Cowling, Belinda S., Chevremont, Thierry, Prokic, Ivana, Kretz, Christine, Ferry, Arnaud, Coirault, Catherine, Koutsopoulos, Olga, Laugel, Vincent, Romero, Norma B., Laporte, Jocelyn
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3938268/
https://ncbi.nlm.nih.gov/pubmed/24569376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI71206
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