What is Kearns-Sayre syndrome after all?

Archives of Neurology

Volumn 58, Issue 7, 2001, Pages 1053-1054

  Ashizawa, T ^a   Subramony, S H ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

DISORDERS OF MITOCHONDRIAL FUNCTIONS; EDITORIAL; GENE MUTATION; GENOTYPE; KEARNS SAYRE SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034939187     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.58.7.1053     Document Type: Editorial

References (20)

1. Mitochondrial DNA and the genetics of mitochondrial disease
2. Sequence and organization of the human mitochondrial genome
3. Characteristics of mitochondrial DNA diseases
4. Mitochondrial myopathies and encephalomyopathies
5. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
6. Leu gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome
7. Mitochondrial encephalomyopathies: Lumping, splitting and melding
8. The mitochondrial DNA transfer RNA(Leu)(UUR) A→G (3243) mutation: A clinical and genetic study
9. Two novel pathogenic mitochondrial mutations affecting organelle number and protein synthesis: Is the tRNA(Leu (UUR)) gene an etiologic hot spot?
10. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
11. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes
12. Maternal genes: Mitochondrial diseases
13. Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell
14. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
15. Impaired mitochindrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A→G (MERRF) mutation
16. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
17. Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA
18. Human cells lacking mtDNA
19. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
20. Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes