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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Pubblicato in:Brain
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Original Articles
Accesso online: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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