Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 149-152

  Randolph, Linda M ^a   Jackson, Hollie A ^a   Wang, Jing ^b   Shimada, Hiroyuki ^a   Sanchez Lara, Pedro A ^a   Wong, Derek A ^a   Wong, Lee Jun ^b   Boles, Richard G ^a  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Fatal infantile lactic acidosis; MtDNA deletion syndrome; SUCLG1 mutation

Indexed keywords

CARNITINE; DOPAMINE; LACTIC ACID; MITOCHONDRIAL DNA; SUCCINYL COA LIGASE GDP BINDING SUBUNIT ALPHA; SUCCINYL COENZYME A; UBIQUINONE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; DISEASE ASSOCIATION; DNA SEQUENCE; ENZYME ACTIVITY; FATAL INFANTILE LACTIC ACIDOSIS; FATALITY; FEMALE; GENE MUTATION; HISTOLOGY; HUMAN; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; NEWBORN; NUCLEAR MAGNETIC RESONANCE; PRENATAL SCREENING; PRIORITY JOURNAL; SKELETAL MUSCLE;

ACIDOSIS, LACTIC; ADULT; DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION; PREGNANCY; RNA SPLICE SITES; SUCCINATE-COA LIGASES;

EID: 78651450525     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.10.014     Document Type: Article

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