Abstract | BACKGROUND: AIMS: We investigated 27 consecutive patients with varied clinical phenotypes referred to our laboratory for mtDNA studies to determine the incidence of recognised point mutations in a patient group with a range of phenotypes including many where mt disease was possible but did not fall into a classical syndrome. METHODS: The recognised point mutations were detected by amplification of the appropriate DNA fragment by PCR followed by restriction-endonuclease digestion of the normal and mutant species. RESULTS: CONCLUSIONS: The presentation of the mtDNA mutation at nt3243 appears therefore to be quite variable with some mild phenotypes as well as severe phenotypes observed. In general, the chance of finding a mitochondrial point mutation in a patient with an atypical clinical phenotype is small.
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Authors | M J Jean-Francois, P Lertrit, S F Berkovic, D Crimmins, J Morris, S Marzuki, E Byrne |
Journal | Australian and New Zealand journal of medicine
(Aust N Z J Med)
Vol. 24
Issue 2
Pg. 188-93
(Apr 1994)
ISSN: 0004-8291 [Print] Australia |
PMID | 8042948
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- RNA, Transfer, Leu
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Topics |
- Adult
- DNA, Mitochondrial
(genetics)
- Deafness
(genetics)
- Female
- Gene Expression
- Genetic Variation
- Humans
- MELAS Syndrome
(genetics)
- Male
- Middle Aged
- Mitochondrial Encephalomyopathies
(genetics)
- Ophthalmoplegia, Chronic Progressive External
(genetics)
- Phenotype
- Point Mutation
- RNA, Transfer, Leu
(genetics)
- Restriction Mapping
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