Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies

Mitochondrion

Volumn 10, Issue 4, 2010, Pages 330-334

  Cao, Yanyan ^a   Ma, Yinan ^a   Zhang, Ying ^a   Li, Yujie ^a   Fang, Fang ^b   Wang, Songtao ^a   Bu, Dingfang ^a   Xu, Yufeng ^a   Pei, Pei ^a   Li, Lin ^a   Xiao, Yang ^a   Wu, Hairong ^a   Yang, Yanling ^a   Zou, Liping ^c   Qi, Yu ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

^c CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

MELAS; Mitochondrial DNA; Mitochondrial encephalomyopathy; Mutation

Indexed keywords

ADENINE; GUANINE; LACTIC ACID; PYRUVIC ACID; THYMINE;

ADOLESCENT; ADULT; AGE; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINA; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SCREENING; HEADACHE; HETEROPLASMY; HIRSUTISM; HUMAN; LACTATE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POINT MUTATION; POINT OF CARE TESTING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SHORT STATURE;

ADOLESCENT; ADULT; AGE FACTORS; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; POINT MUTATION; YOUNG ADULT;

EID: 77952888039     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.01.008     Document Type: Article

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