1995
DOI: 10.1016/0925-4439(95)00020-5
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Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype

Abstract: This study examines the relationship of genotype to phenotype in 14 unselected patients who were found to harbour the A3243G transition in the mitochondrial transfer RNALeu(UUR) gene commonly associated with the syndrome of mitochondrial encephalopathy, lactic acidosis and strokes (MELAS). Only 6 of the 14 cases (43%) had seizures and recurrent strokes, the core clinical features of the MELAS phenotype. Of the remaining cases, four had an encephalomyopathy with deafness, ataxia and dementia, two had syndromes … Show more

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Cited by 78 publications
(38 citation statements)
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“…(A comprehensive list of pathogenic mtDNA mutations and associated phenotypes is provided in reference [7].) Respiratory chain dysfunction has been documented in most of these disorders, although there is often no clear correlation between the site of the biochemical defect and the clinical phenotype [52,53]. It had been hoped that the advent of specific mtDNA defects might allow clear genotype-phenotype correlations to be made.…”
Section: Review Articlementioning
confidence: 98%
“…(A comprehensive list of pathogenic mtDNA mutations and associated phenotypes is provided in reference [7].) Respiratory chain dysfunction has been documented in most of these disorders, although there is often no clear correlation between the site of the biochemical defect and the clinical phenotype [52,53]. It had been hoped that the advent of specific mtDNA defects might allow clear genotype-phenotype correlations to be made.…”
Section: Review Articlementioning
confidence: 98%
“…Defects in mitochondrial based diseases of MELAS and MERFF have shown defects most often in Complex I and Complex IV activities [13,40,59,62]. Deficiencies in either Complex V (ATP synthase), Complex IV (cytochrome c oxidase), or in pyruvate dehydrogenase activities have been described in Leigh syndrome [12,34,46,67].…”
Section: Biochemical Analysismentioning
confidence: 98%
“…Primary mutations of mtDNA only rarely manifest with parkinsonism. 9,10 Inherited mtDNA-mediated defects of complex I usually manifest with encephalomyopathic features rather than parkinsonism. 11,12 Other inherited primary specific respiratory chain defects (eg, affecting complex IV) produce a broader phenotype.…”
Section: Mitochondriamentioning
confidence: 99%