title: Mitochondrial myopathy in Marinesco-Sjögren syndrome.
abstract: Myopathy represents one of the major features of Marinesco-Sjögren syndrome (MSS). Seven patients with MSS from three different families were studied with morphological and neurophysiological methods. In two patients ragged-red fibres were found after Gomori trichrome staining. Transmission electron microscopy (EM) showed that subsarcolemmal accumulation of abnormal mitochondria regularly occurred and in one patient paracrystalline inclusion bodies were found. The EMG showed myopathic changes while the nerve condition velocities were normal. A delayed normalization of exercised-induced hyperlactatemia was noted. These findings show that mitochondrial myopathic changes are present in MSS.
authors.affiliation: Department of Neurology, University Hospital, Tromsøo, Norway.
authors.forename: T
authors.initials: T
authors.lastname: Torbergsen
authors.forename: J
authors.initials: J
authors.lastname: Aasly
authors.forename: O
authors.initials: O
authors.lastname: Borud
authors.forename: S
authors.initials: S
authors.lastname: Lindal
authors.forename: S I
authors.initials: SI
authors.lastname: Mellgren
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D025063:Chromosome Disorders; D005080:Exercise Test; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D009460:Neurologic Examination; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D011773:Pyruvates / Q000097:blood; D019289:Pyruvic Acid; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014057:Tomography, X-Ray Computed
chemical_list: D007773:Lactates; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid