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Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
- Source :
-
Journal of child neurology [J Child Neurol] 2007 Jul; Vol. 22 (7), pp. 858-62. - Publication Year :
- 2007
-
Abstract
- A 14-year-old boy had exercise intolerance, weakness, ataxia, and lactic acidosis. Because his muscle biopsy showed a mosaic pattern of fibers staining intensely with the succinate dehydrogenase reaction but not at all with the cytochrome c oxidase reaction, we sequenced his mitochondrial DNA and found a novel mutation (C14680A) in the gene for tRNAGlu. The mutation was present in accessible tissues from the asymptomatic mother but not from a brother with Asperger syndrome. These data expand the clinical heterogeneity of mutations in this mitochondrial gene.
- Subjects :
- Adolescent
Electron Transport Complex IV metabolism
Humans
Male
Mitochondrial Encephalomyopathies metabolism
Mitochondrial Encephalomyopathies pathology
Muscle, Skeletal pathology
Mutation
Polymorphism, Single Nucleotide
RNA, Transfer, Glu metabolism
Cytochrome-c Oxidase Deficiency genetics
DNA, Mitochondrial genetics
Mitochondrial Encephalomyopathies genetics
Muscle, Skeletal metabolism
RNA, Transfer, Glu genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0883-0738
- Volume :
- 22
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Journal of child neurology
- Publication Type :
- Academic Journal
- Accession number :
- 17715279
- Full Text :
- https://doi.org/10.1177/0883073807304199