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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Bibliografske podrobnosti
izdano v:Brain
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2017
Teme:
Original Articles
Online dostop: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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