Data from: Adult MTM1-related myopathy carriers: classification based on deep phenotyping

Benjamin T. Cocanougher, Lauren Flynn, Pomi Yun, Minal Jain, Ruhi Vasavada, Jason Wittenbach, Sabine De Chastonay, Sameer Chhibber, A. Micheil Innes, Linda MacLaren, Tahseen Mozaffar, Andrew E. Arai, Sandra Donkervoort, Carsten G. Bönnemann & A. Reghan Foley
Objective To better characterize adult MTM1-related myopathy carriers and recommend a phenotypic classification. Methods This cohort study was performed at the National Institutes of Health Clinical Center. Participants were required to carry a confirmed MTM1 mutation and were recruited via the Congenital Muscle Disease International Registry (n=8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH and Cure CMD (n=1) and direct physician referral (n=1). Neuromuscular examinations, muscle MRI,...
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