학술논문
A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome.
Document Type
Article
Author
Source
Subject
*GENETICS
*CYTOCHROME oxidase
*TRYPTOPHAN
*TRANSFER RNA
*MITOCHONDRIAL DNA
*GENETIC mutation
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*
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Language
ISSN
1018-4813
Abstract
We report a novel, heteroplasmic point mutation in the mitochondrial tRNA for tryptophan at position 5532. The mutation was present in all the tissues studied and segregated with the biochemical defect, with higher levels of mutation present in cytochrome c oxidase-deficient muscle fibres. The patient manifested a neurogastrointestinal syndrome with features including failure to thrive, psychomotor retardation, ophthalmoplegia, sensorineural deafness and encephalopathy together with vomiting, diarrhoea and colitis.European Journal of Human Genetics (2004) 12, 509-512. doi:10.1038/sj.ejhg.5201185 Published online 31 March 2004 [ABSTRACT FROM AUTHOR]