title: Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy.
abstract: In this study we comparatively analysed deltoid histochemistry, biochemistry and mitochondrial DNA (mtDNA) in two groups of ten sporadic ocular mitochondrial myopathies (OMM), respectively with and without ragged red fibres (RRF). (1) All but one RRF--patients presented the mild form of OMM with blepharoptosis but without ophthalmoplegia; (2) the occurrence of cytochrome c oxidase deficient (COX-) fibres was significantly higher in the RRF+ group, but four RRF- cases also showed COX- fibres; (3) no difference was observed in biochemical findings between the groups; (4) two RRF- patients without COX- fibres showed mtDNA heteroplasmy; (5) in two RRF- patients without deltoid mtDNA deletion, biopsy of an eyelid muscle showed significant mitochondrial alterations. These results suggest that the expression of a mitochondrial defect can vary and that the absence of RRF in a skeletal muscle biopsy does not necessarily rule out the diagnosis of OMM, if other data support that.
authors.affiliation: Institute of Neurology Clinic, University of Pisa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: B
authors.initials: B
authors.lastname: Rossi
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: A
authors.initials: A
authors.lastname: Martinuzzi
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: G
authors.initials: G
authors.lastname: Bevilacqua
authors.forename: P
authors.initials: P
authors.lastname: Viacava
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: A
authors.initials: A
authors.lastname: Muratorio
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001763:Blepharoptosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D002648:Child; D004272:DNA, Mitochondrial / Q000096:biosynthesis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D010088:Oxidoreductases / Q000378:metabolism; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial; D010088:Oxidoreductases