New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

Mitochondrion

Volumn 10, Issue 4, 2010, Pages 335-341

  Valayannopoulos, Vassili ^a   Haudry, Coralie ^a   Serre, Valérie ^a   Barth, Magalie ^b   Boddaert, Nathalie ^a   Arnoux, Jean Baptiste ^a   Cormier Daire, Valérie ^a   Rio, Marlène ^a   Rabier, Daniel ^a   Vassault, Anne ^a   Munnich, Arnold ^a   Bonnefont, Jean Paul ^a   Lonlay, Pascale de ^a   Rötig, Agnès ^a   Lebre, Anne Sophie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITÉ D'ANGERS   (France)

Author keywords

Leigh like encephalomyopathy; Methylmalonic aciduria; Mitochondrial DNA depletion; SUCLG1 gene

Indexed keywords

ACETYLCARNITINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CITRIC ACID; CREATINE KINASE; LACTIC ACID; METHYLMALONIC ACID; SUCCINYL COENZYME A SYNTHETASE; SUCCINYL COENZYME A SYNTHETASE 1; UNCLASSIFIED DRUG;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BRAIN ATROPHY; BRAIN DAMAGE; CASE REPORT; CHILD; CITRIC ACID CYCLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE COURSE; DYSTONIA; EPILEPSY; FEEDING DISORDER; FEMALE; GENE SEQUENCE; GROWTH RETARDATION; HEPATOMEGALY; HUMAN; HYPERTRICHOSIS; LACTIC ACIDOSIS; LIVER DYSFUNCTION; MALE; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION; MUSCLE ATROPHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RESPIRATORY CHAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHABDOMYOLYSIS; SCHOOL CHILD; SPASTICITY; STRABISMUS; URINE LEVEL;

EID: 77952887986     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.02.006     Document Type: Article

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