Title: | A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels |
Journal : | Pediatric neurology, 58 |
Authors: | Abath Neto O, Author ; Silva MR ; Martins CA ; Oliveira AS ; Reed UC ; Biancalana V ; Pesquero JB ; Laporte J ; Zanoteli E |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 107 |
Languages: | English |
Keywords : | Brazil ; clinical presentation ; cohort studies ; MTM1 gene ; muscle biopsies ; muscle histopathology ; oxidative stress ; photographies ; X-linked inheritance ; X-linked myotubular myopathy |
Keywords: | MTM1;centronuclear myopathy;congenital myopathy;myotubular myopathy;myotubularin; |
Pubmed / DOI : | DOI : 10.1016/j.pediatrneurol.2016.01.023 / Pubmed : 26995067 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/26995067 |