Mitochondrial DNA detection with Kearns Sayre syndrome in a child with Addison disease

European Journal of Pediatrics

Volumn 157, Issue 8, 1998, Pages 643-647

  Boles, R G ^a   Roe, T ^a   Senadheera, D ^a   Mahnovski, V ^a   Wong, L J C ^b  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b GEORGETOWN UNIVERSITY   (United States)

Author keywords

Addison disease; Heteroplasmy analysis; Kearns Sayre syndrome; Mitochondrial DNA deletion

Indexed keywords

MITOCHONDRIAL DNA;

ADDISON DISEASE; ARTICLE; ATAXIA; CASE REPORT; CHILD; DISEASE ASSOCIATION; GENE DELETION; HEART BLOCK; HUMAN; KEARNS SAYRE SYNDROME; MALE; OPHTHALMOPLEGIA; PRIORITY JOURNAL; RETINOPATHY; CHROMOSOME DELETION; CHROMOSOME MAP; FATALITY; GENETICS; LACTIC ACIDOSIS; PRESCHOOL CHILD;

ACIDOSIS, LACTIC; ADDISON DISEASE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; DNA, MITOCHONDRIAL; FATAL OUTCOME; HUMANS; KEARNS-SAYER SYNDROME; MALE;

EID: 0031595077     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050902     Document Type: Article

References (21)

1. Burns EC, Preece MA, Cameron N, Tanner JM (1982) Growth hormone deficiency in mitochondrial cytopathy. Acta Pædiatr Scand 71:693-697
2. Carboni P, Giacanelli M, Porro G, Sideri G, Paolella A (1981) Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia. Ital J Neurol Sci 3:263-268
3. Clark KM, Bindoff LA, Lightowlers RN, Andrews RM, Griffiths PG, Johnson MA, Brierley EJ, Turnbull DM (1997) Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 16:222-224
4. Draehman DA (1968) Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol 18:654-674
5. Goodhue WW Jr, Couch RD, Namiki H (1979) Spongy degeneration of the CNS. An instance of the rare juvenile form. Arch Neurol 36:481-484
6. Goto Y, Itami N, Kajii N, Tochimaru H, Endo M, Horai S (1990) Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. J Pediatr 116:904-910
7. Harvey JN, Barnett D (1992) Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinology 37:97-103
8. Holt IJ, Harding AE, Cooper JM, et al (1989) Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol 26:699-708
9. Horwitz SJ, Roessmann U (1978) Kearns-Sayre syndrome with hypoparathyroidism. Ann Neurol 3:513-518
10. North K, Korson MS, Krawiecki N, Shoffner JM, Holm IA (1996) Oxidative phosphorylation defect associated with primary adrenal insufficiency. J Pediatr 128:688-692
11. Ohno K, Yamamoto M, Engel AG, et al (1996) MELAS-and Kearns-Sayre-type co-mutation with myopathy and autoimmune polyendocrinopathy. Ann Neurol 39:761-766
12. Quade A, Zierz S, Klingmüller D (1992) Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. Clin Invest 70:396-402
13. Rötig A, Cormier V, Chatelain P, et al (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 91:1095-1098
14. Shanske S, Moraes CT, Lombes A, et al (1990) Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome. Neurology 40:24-28
15. Shoffner JM, Wallace DC (1995) Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1535-1629
16. Shy GM, Gonatas NK, Perez M (1966) Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy. Brain 89:133-168
17. Simopoulos AP, Delea CS, Bartter FC (1971) Neurodegenerative disorders and hyperaldosteronism. J Pediatr 79:633-641
18. Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503-517
19. Spiro AJ, Prineas JW, Moore CJ (1970) A new mitochondrial myopathy in a patient with salt craving. Arch Neurol 22:259-269
20. Tulinius MH, Oldfors A, Holme E, et al (1995) Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions. Eur J Pediatr 154:35-42
21. Wong L-JC, Senadheera D (1997) Direct detection of multiple point muations in mitochondrial DNA. Clin Chem 43:1857-1861