title: Mitochondrial oculoskeletal myopathy: case report.
abstract: We report a case of oculoskeletal myopathy with abnormal mitochondria in which the chief clinical feature was ophthalmoplegia. Muscle weakness was mild and there were no retinal or cerebellar abnormalities, no deafness and no cardiac defects. The muscle biopsy specimen revealed subsarcolemmal mitochondrial aggregates and ragged red fibers. Electronmicroscopy showed that the aggregates were made up of mitochondria of variable size with structural abnormalities of the cristae and crystalloid inclusions. We believe that this oculoskeletal myopathy is distinct from Kearn-Sayre syndrome.
authors.affiliation: Clinica Neurologica, Università di Modena.
authors.forename: A
authors.initials: A
authors.lastname: Colombo
authors.forename: E
authors.initials: E
authors.lastname: Merelli
authors.forename: P
authors.initials: P
authors.lastname: Sola
authors.forename: P
authors.initials: P
authors.lastname: Panzetti
authors.forename: D
authors.initials: D
authors.lastname: Quaglino
authors.forename: C
authors.initials: C
authors.lastname: Fornieri
mesh_terms: D000328:Adult; D003576:Electron Transport Complex IV / Q000378:metabolism*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D009468:Neuromuscular Diseases / Q000473:pathology* / Q000503:physiopathology; D009886:Ophthalmoplegia / Q000473:pathology* / Q000503:physiopathology
chemical_list: D003576:Electron Transport Complex IV