A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

European Journal of Pediatrics

Volumn 169, Issue 2, 2010, Pages 201-205

  Ostergaard, Elsebet ^a   Schwartz, Marianne ^a   Batbayli, Mustafa ^a   Christensen, Ernst ^a   Hjalmarson, Ola ^b   Kollberg, Gittan ^c   Holme, Elisabeth ^c  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Encephalomyopathy; Methylmalonic aciduria; MTDNA depletion; Succinate CoA ligase; SUCLA2; SUCLG1

Indexed keywords

ADENOSINE DIPHOSPHATE; GUANOSINE DIPHOSPHATE; METHYLMALONIC ACID; PROTEIN SUCLG1; SUCCINYL COENZYME A SYNTHETASE; SUCCINYL COENZYME A SYNTHETASE BETA; UNCLASSIFIED DRUG;

ALPHA CHAIN; ARTICLE; BETA CHAIN; CASE REPORT; CHEMICAL ANALYSIS; CHILD; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; ENCEPHALOMYOPATHY; GENETIC ASSOCIATION; GENETIC CODE; HOMOZYGOSITY; HUMAN; LACTIC ACIDOSIS; MALE; MASS FRAGMENTOGRAPHY; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION; MOLECULAR GENETICS; MOTOR DEVELOPMENT; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SOUTHERN BLOTTING;

BRAIN; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FOLLOW-UP STUDIES; GENE FREQUENCY; HUMANS; INFANT, NEWBORN; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; METHYLMALONIC ACID; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SUCCINATE-COA LIGASES; TIME FACTORS;

EID: 77949423537     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1007-z     Document Type: Article

References (13)

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