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Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
Journal Article
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
07/2010
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed... 
centronuclear myopathy | myotubular myopathy | congenital neuromuscular disease with uniform Type 1 fibers | Central core disease | congenital myopathy
Web Resource
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2014, Volume 124, Issue 3, pp. 1350 - 1363
Journal Article
Journal Article
Muscle & Nerve, ISSN 0148-639X, 11/2017, Volume 56, Issue 5, pp. 943 - 953
Introduction: X-linked myotubular myopathy (XLMTM), a devastating pediatric disease caused by the absence of the protein myotubularin, results from mutations... 
myotubular myopathy | gait | muscle | adeno‐associated virus | gene therapy | neuromuscular disease | canine | adeno-associated virus | MUSCLE PATHOLOGY | WALKING | PHENOTYPE | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | LIMB | INTERVALS | MUTATIONS | VALIDITY | WALKWAY SYSTEM | Dependovirus - genetics | Genetic Therapy | Respiration Disorders - etiology | Humans | Glucuronidase - metabolism | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - veterinary | Myopathies, Structural, Congenital - complications | Myopathies, Structural, Congenital - therapy | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Female | NAD - metabolism | Disease Models, Animal | Protein Tyrosine Phosphatases, Non-Receptor - therapeutic use | Transduction, Genetic | Muscle, Skeletal - ultrastructure | Adenosine Triphosphatases - metabolism | Microscopy, Electron | Mutation - genetics | Animals | Neurologic Examination | Glucuronidase - genetics | Dogs | Muscle, Skeletal - pathology | Longitudinal Studies | Gait Disorders, Neurologic - etiology | Medical research | Genetic vectors | Analysis | Genes | Medicine, Experimental | Children | Gene therapy | Gene expression | Diseases | Pathology | MTM1 gene | Gait | Copy number | Viruses | Muscular strength | Mutation | Myopathy | Long-term effects | Index Medicus
Journal Article