Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 109-111

  Abramowicz, M J ^a   Cochaux, P ^a   Cohen, L H F ^a   Vamos, E ^a  

^a ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ATROPHIC GASTRITIS; CASE REPORT; CONFERENCE PAPER; GENE DUPLICATION; GENOME; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; KEARNS SAYRE SYNDROME; MALE; MITOCHONDRIAL MYOPATHY; PERNICIOUS ANEMIA; SCHOOL CHILD;

ALGERIA; ANEMIA, PERNICIOUS; BELGIUM; CHILD; DNA, MITOCHONDRIAL; HUMANS; HYPOPARATHYROIDISM; KEARNS-SAYER SYNDROME; MALE; MULTIGENE FAMILY; RESTRICTION MAPPING;

EID: 0029869034     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799405     Document Type: Article

References (5)

1. Aaltonen J, Bjorses P, Sandkuijl L, Perheentupa J, Peltonen L (1994) An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nature Genet 8: 83 -87.
2. Horwitz SJ, Roessmann U (1978) Kearns-Sayre syndrome with hypoparathyroidism. Ann Neurol 3: 513-518.
3. Poulton J, Holt IJ (1994) Mitochondrial DNA: does more lead to less? Nature Genet 8: 313-315.
4. Rötig A, Bessis JL, Romero N, et al (1992) Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 50: 364-370.
5. Schon EA (1993) Mitochondria. In DiMauro S, Wallace DC, eds. Mitochondrial DNA in Human Pathology. New York: Raven Press, 1-7.