title: Adult-onset mitochondrial myopathy.
abstract: Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical feature. Mitochondrial pathology was confirmed by evidence of ragged-red fibres in muscle histochemistry, an abnormal mitochondrial morphology in electron microscopy and by exclusion of other underlying diseases. No deletions of mitochondrial DNA were found. We emphasize the need to look for a mitochondrial disorder in some non-specific myopathies starting in adult life.
authors.affiliation: Internal Medicine Service, Hospital Clínic, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Fernandez-Sola
authors.forename: J
authors.initials: J
authors.lastname: Casademont
authors.forename: J M
authors.initials: JM
authors.lastname: Grau
authors.forename: F
authors.initials: F
authors.lastname: Graus
authors.forename: F
authors.initials: F
authors.lastname: Cardellach
authors.forename: E
authors.initials: E
authors.lastname: Pedrol
authors.forename: A
authors.initials: A
authors.lastname: Urbano-Marquez
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000473:pathology* / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000473:pathology