title: Nail-patella syndrome associated with respiratory chain disorder.
abstract: Nail-patella syndrome (NPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typical phenotype of an NPS, weakness and wasting of the shoulder girdle muscles, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kinase elevation were observed. Echocardiography revealed left ventricular hypertrabeculation. Needle electromyography was myopathic, lactate stress testing was abnormal, muscle biopsy showed typical features of an RCD and mtDNA analysis revealed the A3243G MELAS mutation. In conclusion, this case demonstrates that NPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS.
authors.affiliation: Ludwig Boltzmann Institute for Research in Epilepsy and Neuromuscular Disorders, Krankenanstalt Rudolfstiftung, A-1180 Vienna, Austria. fij@2nr.nkr.magwien.gv.at
authors.forename: J
authors.initials: J
authors.lastname: Finsterer
authors.forename: C
authors.initials: C
authors.lastname: Stöllberger
authors.forename: J
authors.initials: J
authors.lastname: Wanschitz
authors.forename: M
authors.initials: M
authors.lastname: Jaksch
authors.forename: H
authors.initials: H
authors.lastname: Budka
mesh_terms: D000328:Adult; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D004452:Echocardiography; D004579:Electron Transport / Q000235:genetics*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis / Q000235:genetics; D017241:MELAS Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008931:Mitochondria, Muscle / Q000000981:diagnostic imaging; D018482:Muscle, Skeletal / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics; D009261:Nail-Patella Syndrome / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial; D003402:Creatine Kinase