title: Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature.
abstract: Dynamin (DNM2) centronuclear myopathy (CNM) has variable age of onset, distal greater than proximal muscle weakness, ptosis with or without extraocular muscle weakness, and a characteristic muscle biopsy with radial sarcoplasmic strands giving spoke like appearance. The following case report highlights clinical, electrophysiology, and pathology features of a genetic confirmed DNM2 CNM subject. In addition, a review of literature on all genetic confirmed DNM2 CNM cases published in English literature from 2006 to 2016 is presented.
authors.affiliation: Departments of *Pediatrics and †Neurology, Emory University School of Medicine, Atlanta, GA.
authors.forename: Sumit
authors.initials: S
authors.lastname: Verma
authors.forename: Suman B
authors.initials: SB
authors.lastname: Balasubramanian
mesh_terms: D000293:Adolescent; D034285:Dynamin II; D034281:Dynamins / Q000235:genetics*; D004568:Electrodiagnosis; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype
chemical_list: C000593490:DNM2 protein, human; D034285:Dynamin II; D034281:Dynamins