Protean phenotypic features of the A3243G mitochondrial DNA mutation

Archives of Neurology

Volumn 66, Issue 1, 2009, Pages 85-91

  Kaufmann, Petra ^a,f   Engelstad, Kristin ^a   Wei, Ying ^a   Kulikova, Romana ^a   Oskoui, Maryam ^d   Battista, Vanessa ^a   Koenigsberger, Dorcas Y ^a   Pascual, Juan M ^e   Sano, Mary ^b   Hirano, Michio ^a   DiMauro, Salvatore ^a   Shungu, Dikoma C ^c   Mao, Xiangling ^g   De Vivo, Darryl C ^a  

^a NewYork Presbyterian Hospital   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f NEUROLOGICAL INSTITUTE   (United States)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DISEASE SEVERITY; FEMALE; HUMAN; LABORATORY TEST; MALE; MELAS SYNDROME; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EARLY DIAGNOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMANS; INHERITANCE PATTERNS; MALE; MELAS SYNDROME; MIDDLE AGED; MUTATION; PHENOTYPE; QUESTIONNAIRES; YOUNG ADULT;

EID: 58449106056     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2008.526     Document Type: Article

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