A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract

Neurology

Volumn 57, Issue 10, 2001, Pages 1930-1931

  Jaksch, M ^a   Lochmuller, H ^b   Schmitt, F ^c   Volpel, B ^c   Obermaier Kusser, B ^a   Horvath, R ^a  

^a Klinikum Schwabing   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c HELIOS KLINIKUM KREFELD   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRANSFER RNA;

ADULT; ARTICLE; CASE REPORT; CATARACT; CLINICAL FEATURE; DEPRESSION; DIAGNOSTIC IMAGING; ENZYME ACTIVITY; GAIT DISORDER; HEARING LOSS; HUMAN; IMAGE ANALYSIS; MALE; MUSCLE BIOPSY; NEUROLOGIC DISEASE; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PSYCHOSIS; RESPIRATORY CHAIN; SOMATIC MUTATION; SUICIDAL BEHAVIOR; SYMPTOM;

EID: 0035960570     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.57.10.1930     Document Type: Article

References (7)

1. A mitochondrial encephalomyopathy: The first case with an established defect at the level of coenzyme
2. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR
3. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot?
4. Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase
5. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial Dna
6. A novel mutation in the mitochondrial tRNA(Tyr) gene associated with exercise intolerance
7. A novel heteroplasmic tRNAleu(CUN) mTDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy