Document Detail


Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy.
MedLine Citation:
PMID:  1300188     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
G Siciliano; B Rossi; C Angelini; A Martinuzzi; R Carrozzo; G Bevilacqua; P Viacava; A Federico; G M Fabrizi; A Muratorio
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  2     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  1992  
Date Detail:
Created Date:  1993-05-27     Completed Date:  1993-05-27     Revised Date:  2012-05-09    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  397-404     Citation Subset:  IM    
Affiliation:
Institute of Neurology Clinic, University of Pisa, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Blepharoptosis / genetics,  metabolism*,  pathology
Child
DNA, Mitochondrial / biosynthesis
Female
Humans
Male
Middle Aged
Mitochondria, Muscle / enzymology,  metabolism*,  pathology
Mitochondrial Myopathies / genetics,  metabolism*,  pathology
Ophthalmoplegia, Chronic Progressive External / genetics,  metabolism*,  pathology
Oxidoreductases / metabolism
Phenotype
Grant Support
ID/Acronym/Agency:
C.10//Telethon
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial; EC 1.-/Oxidoreductases

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