Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 584-587

  Mehrazin, Mahsa ^a   Shanske, Sara ^a   Kaufmann, Petra ^a   Wei, Ying ^b   Coku, Jorida ^a   Engelstad, Kristin ^a   Naini, Ali ^a   De Vivo, Darryl C ^a   DiMauro, Salvatore ^a,c  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b Columbia University Mailman School of Public Health ^*  (United States)

^c Russ Berrie Medical Sciences Pavilion   (United States)

Author keywords

A3243G; Heteroplasmy; MELAS; Mitochondrial DNA mutation; Mutant load

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KARNOFSKY PERFORMANCE STATUS; MELAS SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; REAL TIME POLYMERASE CHAIN REACTION; SYMPTOM;

DNA, MITOCHONDRIAL; HUMANS; KARNOFSKY PERFORMANCE STATUS; LONGITUDINAL STUDIES; MELAS SYNDROME; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS;

EID: 63749097263     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32703     Document Type: Article

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