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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Publicado no:Brain
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Original Articles
Acesso em linha: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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