Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II

American Journal of Medical Genetics

Volumn 102, Issue 1, 2001, Pages 95-99

  Wong, Lee Jun C ^a   Dai, Pu ^b   Tan, Duanjun ^c   Lipson, Mark ^a   Grix, Art ^b   Sifry Platt, Mara ^c   Gropman, Andrea ^b   Chen, Tian Jian ^c  

^a GEORGETOWN UNIVERSITY   (United States)

^b Genetics Department   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Complex IV deficiency; COXII mutation; Mitochondrial disorder; mtDNA mutation

Indexed keywords

AMINO ACID; AMMONIA; COPPER; CYTOCHROME C; CYTOCHROME C OXIDASE; LACTIC ACID; MAGNESIUM; MITOCHONDRIAL DNA; PROTEIN; PROTON; WATER;

ARTICLE; CASE REPORT; DNA SEQUENCE; FRAMESHIFT MUTATION; GEL ELECTROPHORESIS; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; MALE; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ACIDOSIS, LACTIC; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FAMILY HEALTH; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; MALE; PEDIGREE;

RAPHIA FRATER;

EID: 0035934008     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010722)102:1<95::AID-AJMG1412>3.0.CO;2-U     Document Type: Article

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