Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

Journal of Molecular Medicine

Volumn 91, Issue 6, 2013, Pages 727-737

  Gibbs, Elizabeth M ^a   Clarke, Nigel F ^b   Rose, Kristy ^b   Oates, Emily C ^b   Webster, Richard ^b   Feldman, Eva L ^a   Dowling, James J ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Acetylcholinesterase inhibitor; Dynamin 2; Myopathy; Neuromuscular junction

Indexed keywords

CHOLINESTERASE INHIBITOR; DNM2 PROTEIN; EDROPHONIUM; MUTANT PROTEIN; PROTEIN; PYRIDOSTIGMINE; UNCLASSIFIED DRUG;

ADULT; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BODY HEIGHT; CENTRONUCLEAR MYOPATHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIARRHEA; DRUG RESPONSE; DYSPHAGIA; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; EMBRYO; ENTERIC FEEDING; EPILEPSY; EXERCISE TOLERANCE; EYE MOVEMENT; FALLING; FATIGUE; FEMALE; GAIT DISORDER; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENE OVEREXPRESSION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPOSPADIAS; JOINT CONTRACTURE; LIMB WEAKNESS; MALE; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE FATIGUE; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUSCLE WEAKNESS; NEUROIMAGING; NEUROMUSCULAR JUNCTION DISORDER; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PREMATURITY; PRENATAL GROWTH; PTOSIS; RESPIRATORY FAILURE; SCHOOL CHILD; SCOLIOSIS; SINGLE FIBER ELECTROMYOGRAPHY; SPEECH DISORDER; STRABISMUS; WEAKNESS; WEIGHT GAIN; ZEBRA FISH;

ADULT; ANIMALS; CHILD; CHOLINESTERASE INHIBITORS; DISEASE MODELS, ANIMAL; DYNAMIN II; FEMALE; HUMANS; MALE; MOTOR ACTIVITY; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; NEUROMUSCULAR JUNCTION; PYRIDOSTIGMINE BROMIDE; YOUNG ADULT; ZEBRAFISH;

EID: 84878526600     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-013-0994-4     Document Type: Article

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