title: [Screening of mitochondrial deoxyribonucleic acid 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in mitochondrial encephalomyopathies].
abstract: OBJECTIVE
  To investigate the spectrum of mitochondrial DNA (deoxyribonucleic acid) 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in Chinese patients with mitochondrial encephalomyopathies.
  
  
  METHODS
  Peripheral blood samples were collected from 500 mitochondrial encephalomyopathies patients clinically diagnosed as mitochondrial encephalomyopathy lactic acidosis & stroke-like episodes (MELAS), myoclonus epilepsy & ragged-red fibers (MERRF) or Leigh's syndrome from October 2005 to October 2009. The methods of PCR- polymerase chain reaction-restriction fragment length polymorphism (RFLP) and PCR-sequencing were performed to identify the mutations.
  
  
  RESULTS
  No patients with the 3271T > C, 8356T > C, 9176T > C/G or 13513G > A mutations were identified.
  
  
  CONCLUSIONS
  The mutations of 3271T > C, 8356T > C, 9176T > C/G and 13513G > A are rare causes of mitochondrial encephalomyopathies in Chinese patients.
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors: Jian-biao
authors: JB
authors: Xu
authors: Yi-nan
authors: YN
authors: Ma
authors: Hong
authors: H
authors: Pan
authors: Xue-fei
authors: XF
authors: Zheng
authors: Ying
authors: Y
authors: Zhang
authors: Song-tao
authors: ST
authors: Wang
authors: Ding-fang
authors: DF
authors: Bu
authors: Yu
authors: Y
authors: Qi