CPEO associated with a single nucleotide deletion in the mitochondrial tRNATyr gene

Neurology

Volumn 57, Issue 12, 2001, Pages 2298-2301

  Raffelsberger, Thomas ^a   Rossmanith, Walter ^a   Thaller Antlanger, Helga ^b   Bittner, Reginald E ^a  

^a UNIVERSITY OF VIENNA   (Austria)

^b Salzburger Landeskliniken   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL RNA; NUCLEOTIDE; TYROSINE;

ADULT; ARTICLE; CASE REPORT; DELETION MUTANT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROMYOGRAM; EXTERNAL OPHTHALMOPLEGIA; FATIGUE; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCLE CELL; PHENOTYPE; PRIORITY JOURNAL; PTOSIS;

EID: 0035956551     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.12.2298     Document Type: Article

References (10)

1. Human mitochondrial diseases: Answering questions and questioning answers
2. Mitochondrial DNA and disease
3. Genetic counseling and prenatal diagnosis in mitochondrial diseases
4. Lactate stress test in the diagnosis of mitochondrial myopathy
5. Exercise fuel mobilization in mitochondrial myopathy: A metabolic dilemma
6. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines
7. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene
8. Update of AM mtDB: A database of multi-aligned metazoa mitochondrial DNA sequences