A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associataed with a novel 7,704-bp deletion

Neurological Sciences

Volumn 23, Issue 5, 2002, Pages 247-250

  Vazquez Acevedo M ^a   Vazquez Memije M E ^b   Mutchinik, O M ^c   Morales, J J ^c   Garcia Ramos G ^c   Gonzalez Halphen D ^a  

^a INSTITUTO DE FISIOLOGÍA CELULAR   (Mexico)

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

Author keywords

Common deletion; Kearns Sayre syndrome; Mutation; Novel deletion; Secondary deletion

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; NUCLEOTIDE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ACTIVITY; GENE DELETION; HUMAN; HUMAN TISSUE; KEARNS SAYRE SYNDROME; MALE; MITOCHONDRION; MUSCLE BIOPSY; OPHTHALMOPLEGIA; PHENOTYPE; SEQUENCE ANALYSIS;

BLOTTING, SOUTHERN; CITRATE (SI)-SYNTHASE; CYTOCHROME REDUCTASES; DNA PRIMERS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HUMANS; KEARNS-SAYER SYNDROME; MALE; OXIDOREDUCTASES; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0036915473     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720200050     Document Type: Article

References (10)

1. Zeviani M, Di Donato S (1991) Neurological disorders due to mutations of the mitochondrial genome. Neuromuscul Disord 1:165-172
2. Poulton J, Morten KJ, Marchington D et al (1995) Duplications of mitochondrial DNA in Kearns-Sayre syndrome. Muscle Nerve 3[Suppl]:S154-S158
3. Di Mauro S, Servidei S, Zeviani M (1987) Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22:498-506
4. Vázquez-Acevedo M, Coria R, González-Astiazarán A et al (1995) Characterization of a 5025 base pair mitochondrial DNA deletion in Kearns-Sayre syndrome. Biochim Biophys Acta 1271:363-368
5. Wallace DC (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212
6. Mita S, Rizzuto R, Moraes CT et al (1990) Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 18:561-567
7. Schon EA, Rizzuto R, Moraes CT et al (1989) A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 244:346-349
8. Shoffner JM, Lott MT, Voljavec AS et al (1989) Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slipreplication model and metabolic therapy. Proc Natl Acad Sci U S A 86:7952-7956
9. Capaldi RA (1982) Arrangement of proteins in the mitochondrial inner membrane. Biochim Biophys Acta 694:291-306
10. Ashizawa T, Subramony SH (2001) What is Kearns-Sayre syndrome after all? Arch Neurol 58:1053-1054