Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

Journal of the Neurological Sciences

Volumn 124, Issue 1, 1994, Pages 77-82

  de Vries, Daniëlle ^a   de Wijs, Ilse ^a   Ruitenbeek, Wim ^a   Begeer, Jacobus ^b   Smit, Peter ^b   Bentlage, Herman ^a   van Oost, Bernard ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

A3243G mutation; Complex I deficiency; MELAS; Mitochondrial myopathy

Indexed keywords

ADULT; ARTICLE; BRAIN DISEASE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; HISTOLOGY; HUMAN; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; PRIORITY JOURNAL;

ADOLESCENT; AUTORADIOGRAPHY; BASE SEQUENCE; CASE REPORT; CHILD; DNA, MITOCHONDRIAL; FEMALE; HUMAN; MALE; MELAS SYNDROME; MITOCHONDRIA, MUSCLE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; OXYGEN CONSUMPTION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEIZURES; SUPPORT, NON-U.S. GOV'T;

EID: 0028272494     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(94)90014-0     Document Type: Article

References (35)

1. Sequence and organization of the human mitochondrial genome
2. Fate and expression of the deleted mtDNA differ between human hetepoplasmic skin fibroblast and Epstein-Bar virus-transformed lymphocyte cultures
3. MELAS: clinical features, biochemistry, and molecular genetics
4. Detection of extremely low levels of wild type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay
5. X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder
6. Mitochondrial dysfunction as a mechanism of CNS injury
7. A specific point mutation in the mitochondrial genome of Caucasians with MELAS
8. Mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme
9. leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
10. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
11. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation
12. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples
13. MELAS: an original case and clinical criteria for diagnosis
14. Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy
15. (3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies
16. Mitochondrial leucine tRNA mutation in neurological diseases
17. Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome
18. LEU(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes)
19. The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations
20. Correlation between clinical and molecular features in two MELAS families
21. A simple salting out procedure for extracting DNA from human nucleated cells
22. Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts
23. Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle
24. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes: a distinctive clinical syndrome
25. leu(UUR) mutation
26. Genetic analysis of the three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
27. Deficiency of α and β subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death
28. Mitochondrial mutation in fatal infantile cardiomyopathy
29. Mitochondrial mutation in fatal infantile cardiomyopathy
30. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
31. Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing
32. Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing
33. Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphological investigations
34. Defects of mitochondrial DNA
35. Rapid detection of the A → G (8344) mutation in Italian families with myoclonus epilepsy and ragged red fibers (MERRF)