title: Neurogenic muscle hypertrophy in type III spinal muscular atrophy.
abstract: Neurogenic muscle hypertrophy is very unusual and has been rarely described. We described a 25-year-old woman presented with proximal muscle weakness with calf muscle hypertrophy. Limb magnetic resonance imaging scans showed increased muscle bulk without fatty changes, and a muscle biopsy revealed prominent hypertrophic type II muscle fibers. A mutation in SMN1 was found in a genetic analysis. This is the first report of neurogenic muscle hypertrophy seen in genetically confirmed spinal muscular atrophy III.
authors: Department of Neurology, Konkuk University School of Medicine, Seoul, Republic of Korea.
authors: Jeeyoung
authors: J
authors: Oh
authors: Seung-Min
authors: SM
authors: Kim
authors: Dong-Seok
authors: DS
authors: Shim
authors: Il Nam
authors: IN
authors: Sunwoo
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000235:genetics / Q000473:pathology; D007866:Leg / Q000473:pathology; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology* / Q000502:physiology; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics