Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient.
OBJECTIVE
Mitochondrial T9957C mutations have been reported in patients with nonarteritic ischemic optic neuropathy and seizures and in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. However, thus far, this mutation has not been reported in patients with chronic progressive external ophthalmoplegia (CPEO).


METHODS
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.


CONCLUSIONS
This study extends the phenotype of T9957C mtDNA mutation.
Department of Neurology, Lotung Poh-Ai Hospital, Ilan, Taiwan.
Ching-Hsiung
CH
Liu
Chia-Wei
CW
Liou
Chi-Hung
CH
Liu
Hung-Chou
HC
Kuo
Chun-Che
CC
Chu
Chin-Chang
CC
Huang
D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D017354:Point Mutation; D013624:Taiwan
D004272:DNA, Mitochondrial