| Title: | Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion |
| Journal : | Brain : a journal of neurology, 140, 1 |
| Authors: | Vasli N ; Harris E ; Karamchandani J ; Bareke E ; Majewski J ; Romero NB ; Stojkovic T ; Barresi R ; Tasfaout H ; Charlton R ; Malfatti E ; Bohm J ; Marini-Bettolo C ; Choquet K ; Dicaire MJ ; Shao YH ; Topf A ; O'Ferrall E ; Eymard B ; Straub V ; Blanco G ; Lochmuller H ; Brais B ; Laporte J ; Tetreault M |
| Material Type: | Article |
| Publication Date: | 2017 |
| Size: | p 37 |
| Languages: | English |
| Keywords: | MLTK;centronuclear myopathy;congenital myopathy;exome;kinase; |
| Lien associé : | Texte complet disponible sur PubMed Central® (PMC) |
| Pubmed / DOI : |
DOI : 10.1093/brain/aww257  / Pubmed : 27816943
|
| Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27816943 |
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Bibliographic database on neuromuscular diseases
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