Clinical and genetic features in a MELAS child with a 3271T>C mutation.

@article{Chou2008ClinicalAG,
  title={Clinical and genetic features in a MELAS child with a 3271T>C mutation.},
  author={Hsiao-Feng Chou and Wen-Chen Liang and Qing Zhang and Yu-ichi Goto and Y -J Jong},
  journal={Pediatric neurology},
  year={2008},
  volume={38 2},
  pages={143-6}
}
A mitochondrial DNA 3271T>C point mutation was reported to be the second most common mutation (following the mutation 3243A>G) in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in Japan. This mutation has rarely been reported in other countries. We present an 11-year-old Taiwanese girl with MELAS, who harbored the 3271T>C mutation and had manifested short stature, epilepsia partialis continua, and recurrent basal ganglia infarctions since age 6 years… CONTINUE READING

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