Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree

Gene

Volumn 506, Issue 2, 2012, Pages 339-343

  Liu, Zhong ^a   Song, Yanrui ^b   Gu, Shulian ^a   He, Xiangyu ^b   Zhu, Xiaoyu ^b   Shen, Yaoyao ^b   Wu, Bifeng ^a   Wang, Wei ^b   Li, Shishi ^b   Jiang, Pingping ^b   Lu, Jianhua ^a   Huang, Wendong ^b,c   Yan, Qingfeng ^b  

^a ZHEJIANG UNIVERSITY   (China)

^b ZHEJIANG UNIVERSITY   (China)

^c CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

12338T>C variant; Chinese; Hypertrophic cardiomyopathy; Maternal inheritance; Mitochondrial DNA

Indexed keywords

METHIONINE; MITOCHONDRIAL DNA; POLYPEPTIDE; THREONINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EXTRACHROMOSOMAL INHERITANCE; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; GENE; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; ND5 GENE; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; RELATIVE; TRANSLATION INITIATION;

ADULT; AGE OF ONSET; AGED; CARDIOMYOPATHY, HYPERTROPHIC; CHINA; DNA, MITOCHONDRIAL; ECHOCARDIOGRAPHY; ELECTRON TRANSPORT COMPLEX I; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; PEDIGREE; RISK FACTORS;

EID: 84864537210     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.06.071     Document Type: Article

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