Abstract | PURPOSE: CASE REPORT: Here we report a female patient with CPEO and agenesis of the corpus callosum. Although no ragged-red fibers were found upon muscle biopsy, sequencing of the entire mitochondrial DNA genome was done. RESULTS: The molecular genetic study revealed a nonsynonymous mitochondrial T9957C mutation. a new genotype of CPEO was identified with varied clinical presentations. Although the effect of the nuclear genome remains unknown, we believe that the nonsynonymous mitochondrial DNA ( mtDNA) T9957C mutation may have a role in the clinical manifestations of this patient. CONCLUSION: This study extends the phenotype of T9957C mtDNA mutation.
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Authors | Ching-Hsiung Liu, Chia-Wei Liou, Chi-Hung Liu, Hung-Chou Kuo, Chun-Che Chu, Chin-Chang Huang |
Journal | Acta neurologica Taiwanica
(Acta Neurol Taiwan)
Vol. 20
Issue 1
Pg. 53-8
(Mar 2011)
ISSN: 1028-768X [Print] China (Republic : 1949- ) |
PMID | 21249588
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Brain
(pathology)
- DNA Mutational Analysis
- DNA, Mitochondrial
(genetics)
- Female
- Humans
- Kearns-Sayre Syndrome
(genetics, pathology)
- Magnetic Resonance Imaging
(methods)
- Middle Aged
- Point Mutation
- Taiwan
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