A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

Journal of Medical Genetics

Volumn 37, Issue 9, 2000, Pages 669-673

  Scharfe, C ^a   Hauschild, M ^b   Klopstock, T ^a   Janssen, A J M ^c   Heidemann, P H ^b   Meitinger, T ^a   Jaksch, M ^d  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b I Klinik für Kinder und Jugendliche   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d INSTITUT FÜR DIABETESFORSCHUNG   (Germany)

Author keywords

Complex I deficiency; SLC19A2 gene; TRMA syndrome

Indexed keywords

CARRIER PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); THIAMINE; TRYPTOPHAN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; BRAIN INJURY; CASE REPORT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIABETES MELLITUS; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; FIBROBLAST; GENE MUTATION; HEARING IMPAIRMENT; HEPATOSPLENOMEGALY; HUMAN; MEGALOBLASTIC ANEMIA; MITOCHONDRIAL ENERGY TRANSFER; MORPHOLOGY; MUSCLE BIOPSY; MUSCLE EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESPIRATORY CHAIN; RETINA DEGENERATION; SHORT STATURE; SKIN BIOPSY; THIAMINE DEFICIENCY; VITAMIN SUPPLEMENTATION;

EID: 0033832914     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.9.669     Document Type: Article

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