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Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 450 - 455
Journal Article
Muscle & Nerve, ISSN 0148-639X, 06/2018, Volume 57, Issue 6, pp. 1014 - 1017
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2015, Volume 355, Issue 1, pp. 143 - 146
Journal Article
Muscle & Nerve, ISSN 0148-639X, 06/2018, Volume 57, Issue 6, pp. 1014 - 1017
Introduction : The p.A1156T mutation alters the function of the voltage‐gated sodium channel Nav1.4 on the muscle sarcolemma, causing a channelopathy without... 
pain | postal survey | SCN4A | myalgia | channelopathy | p.A1156T | CRITERIA | MYOTONIC-DYSTROPHY TYPE-2 | NEUROSCIENCES | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | FIBROMYALGIA | FAMILIES | Surveys | Fibromyalgia | Sarcolemma | Sodium channels | Channelopathy | Myotonia | Muscles | Mental depression | Quality of life | Pain | Sodium | Sodium channels (voltage-gated) | Mutation | Paralysis | Index Medicus
Journal Article
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 02/2016, Volume 4, Issue 1, pp. 9 - 9
Introduction: Limb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated... 
CASA | DNAJB6 | GENE | CLONING | DESMIN POSITIVITY | LGMD1D | ELECTRON-MICROSCOPY | MUTATIONS | Autophagy | NEUROSCIENCES | Myopathy | MYOFIBRILLAR MYOPATHY | Gene mutations | Protein folding | Development and progression | Genetic aspects | Gene expression | Health aspects | Identification and classification | Muscular dystrophy | Index Medicus
Journal Article
Journal Article
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