title: Differences in genetic defects and morphology of eye- and limb muscles in mitochondrial myopathy.
authors.affiliation: Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Lotte
authors.initials: L
authors.lastname: Levison
authors.affiliation: Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Morten
authors.initials: M
authors.lastname: Dunø
authors.affiliation: Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Lotte
authors.initials: L
authors.lastname: Risom
authors.affiliation: Department of Ophthalmology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Peter B
authors.initials: PB
authors.lastname: Toft
authors.affiliation: Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000328:Adult; D001483:Base Sequence; D001706:Biopsy; D001763:Blepharoptosis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D009801:Oculomotor Muscles / Q000201:enzymology / Q000473:pathology*; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D052097:Quadriceps Muscle / Q000201:enzymology / Q000473:pathology*; D017384:Sequence Deletion; D013385:Succinate Dehydrogenase / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV