Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Brain
Egile Nagusiak: Vasli, Nasim, Harris, Elizabeth, Karamchandani, Jason, Bareke, Eric, Majewski, Jacek, Romero, Norma B., Stojkovic, Tanya, Barresi, Rita, Tasfaout, Hichem, Charlton, Richard, Malfatti, Edoardo, Bohm, Johann, Marini-Bettolo, Chiara, Choquet, Karine, Dicaire, Marie-Josée, Shao, Yi-Hong, Topf, Ana, O’Ferrall, Erin, Eymard, Bruno, Straub, Volker, Blanco, Gonzalo, Lochmüller, Hanns, Brais, Bernard, Laporte, Jocelyn, Tétreault, Martine
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2017
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5226058/
https://ncbi.nlm.nih.gov/pubmed/27816943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww257
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