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Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2015, Volume 23, Issue 7, pp. 929 - 934
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2009, Volume 19, Issue 4, pp. 255 - 260
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 02/2016, Volume 75, Issue 2, pp. 102 - 110
X-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of... 
Myotubular | Centronuclear | Congenital | Hypotrophy | Sarcotubular | Myopathy | Myotubularin | RECEPTOR | AUTOPHAGY | PATHOLOGY | NEUROSCIENCES | PHOSPHOINOSITIDES | CARRIER | CLINICAL NEUROLOGY | FAMILY | INACTIVATION | FIBERS | INHIBITION | MUTATION | DISEASE | Animals | Muscle, Skeletal - pathology | Species Specificity | Humans | Myopathies, Structural, Congenital - pathology | Disease Models, Animal | Index Medicus | Review
Journal Article
Limb girdle muscular dystrophies (LGMDs) are a clinically and genetically heterogeneous group of myopathies characterized by weakness and wasting of the... 
LGMD | Hutterite | muscular dystrophy | FKRP | TRIM32 | Sarcotubular Myopathy
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