Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA

Chinese Medical Journal (Taipei)

Volumn 63, Issue 1, 2000, Pages 71-76

  Thajeb, Peterus ^a,b   Lee, Hsin Chen ^c   Pang, Cheng Yoong ^c   Jeng, Chin Ming ^a   Huang, Shiu Feng ^d   Wei, Yau Huei ^c  

^a CATHAY GENERAL HOSPITAL   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Heterogeneity; Heteroplasmy; MELAS syndrome; Mitochondrial DNA; Mutation; Phenotype

Indexed keywords

CREATINE KINASE; DNA; GADOLINIUM PENTETATE; GLUCOSE; LACTIC ACID; MITOCHONDRIAL DNA; PREDNISOLONE; UBIDECARENONE;

ARTICLE; CASE REPORT; DIABETES MELLITUS; ELECTRON MICROSCOPY; GENE; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; MALE; MELAS SYNDROME; MITOCHONDRION; MUSCLE BIOPSY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; PTOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; DNA, MITOCHONDRIAL; HUMANS; MALE; MELAS SYNDROME; PHENOTYPE; POINT MUTATION; RNA, TRANSFER, LEU;

EID: 0033988154     PISSN: 05781337     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Damian MS, Seibel P, Reichmann H, Schachenmayr W, Laube H, Bachmann G, et al. Clinical spectrum of the MELAS mutation in a large pedigree. Acta Neurol Scand 1995;92:409-15.
2. Wallace DC. Mitochondrial diseases in man and mouse. Science 1999;283:1482-8.
3. Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan. J Formos Med Assoc 1999;98: 326-34.
4. Leu\UUR\ gene mutation in a Chinese family. J Neurol Neurosurg Psychiatry 1994;57:586-9.
5. Fang W, Huang CC, Lee CC, Cheng SY, Pang CY, Wei YH. Ophthalmologic manifestations in MELAS syndrome. Arch Neural 1993;50:977-80.
6. Li JY, Kong KW, Chang MH, Cheung SC, Lee HC, Pang CY, Wei YH. MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA. Acta Neurol Scand 1996;93:450-5.
7. Chen RS, Huang CC, Lee CC, Wai YY, Hsi MS, Pang CY, Wei YH. Overlapping syndrome of MERRP and MELAS: molecular and neuroradiological studies. Acta Neurol Scand 1993;87:494-8.
8. Verma A, Moraes CT, Shebert RT, Bradley WG. A MERRF/ PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. Neurology 1996;46:1334-6.
9. Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 1995; 242:304-12.
10. Chinnery PF, Howell N, Lightowlers RN, Tumbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997;120:1713-21.
11. Maassen JA, Kadowaki T. Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 1996; 39:375-82.
12. Leu\UUR\ gene. Diabetes 1994;43:746-51.
13. Reardon W, Ross RJM, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, Trembath RC. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376-9.
14. Arai M, Ohshima SI. Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation. J Neurol 1997;244:468-9.
15. Leu\UUr\ in patient with cluster headache. Lancet 1994;344:625.
16. Morgan-Hughes JA. Mitochondrial diseases. In: Engel AG, Franzini-Armstrong C, eds. Myology Vol 2, 2nd ed. New York: McGraw-Hill Inc, 1994:1622-3.