ANT1, twinkle, POLG, and TP: New genes open our eyes to ophthalmoplegia

Neurology

Volumn 57, Issue 12, 2001, Pages 2163-2165

  Hirano, M ^a   Dimauro, S ^a  

^a Department of Orthopaedic Surgery   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE CLASSIFICATION; EDITORIAL; GENE DELETION; GENE MUTATION; HUMAN; OPHTHALMOPLEGIA; PRIORITY JOURNAL;

EID: 0035956482     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.12.2163     Document Type: Editorial

References (16)

1. Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia
2. Congenital myasthenic syndromes. New insights from molecular genetics and patch-clamp studies
3. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
4. Deletions of mitochondrial DNA in Kearns-Sayre syndrome
5. Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
6. Mitochondrial encephalomyopathies: Gene mutations
7. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
8. Defects of intergenomic communication: Where do we stand?
9. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
10. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
11. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
12. Role of adenine nucleotide translocator 1 in mtDNA maintenance
13. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
14. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
15. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
16. Tyr gene