Infantile presentation of the mtDNA A3243G tRNALeu(UUR) mutation

Neuropediatrics

Volumn 32, Issue 4, 2001, Pages 183-190

  Okhuijsen Kroes, E J ^a   Trijbels, J M F ^a   Sengers, R C A ^a   Mariman, E ^a   Van Den Heuvel, L P ^a   Wendel, U ^a   Koch, G ^a   Smeitink, J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

A3243G mutation; Infantile; Mitochondrial encephalomyopathy; OXPHOS

Indexed keywords

ALANINE; LACTIC ACID; LEUCINE; MITOCHONDRIAL DNA; PYRUVIC ACID; TRANSFER RNA;

AMINO ACID SUBSTITUTION; ARTICLE; CARDIOMYOPATHY; CASE REPORT; FAILURE TO THRIVE; GENE MUTATION; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERLACTATEMIA; INFANT; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; SEIZURE;

ACIDOSIS, LACTIC; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; FAILURE TO THRIVE; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, PREMATURE, DISEASES; LEUCINE; MALE; MELAS SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; MUTATION; PHENOTYPE;

EID: 0034820520     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-17372     Document Type: Article

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