De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

Journal of Paediatrics and Child Health

Volumn 37, Issue 1, 2001, Pages 87-90

  Ko, Ch ^a   Lam, C W ^b   Tse, P W T ^a   Kong, C K ^a   Chan, A K H ^a   Wong, L J C ^c  

^a Caritas Medical Centre Hong Kong   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

De novo mutation; Lactic acidosis; Mitochondrial encephalomyopathies; Mitochondrial encephalopathy; Stroke like episodes syndrome

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ADOLESCENT; ARTICLE; BRAIN INFARCTION; CASE REPORT; CHINESE; GENE MUTATION; HUMAN; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; STROKE;

ADOLESCENT; ADULT; AGED; CHILD; FEMALE; HUMANS; MALE; MELAS SYNDROME; PEDIGREE; POINT MUTATION; RNA; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0035116323     PISSN: 10344810     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1754.2001.00611.x     Document Type: Article

References (28)

1. Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: A distinctive clinical syndrome
2. MELAS: Clinical features, biochemistry, and molecular genetics
3. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
4. Oxidative phosphorylation diseases and mitochondrial DNA mutations: Diagnosis and treatment
5. Pathophysiology of the MELAS 3243 transition mutation
6. MELAS syndrome: Correlation between clinical features and molecular genetic analysis
7. Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) in a Chinese family by PCR-restriction enzyme analysis
8. Correlation between clinical and molecular features in two MELAS families
9. Did de novo MELAS common mitochondrial DNA point mutation (mtDNA3243, A→G transition) occur in the mother of a proband of a Japanese MELAS pedigree?
10. LEU(UUR) mutation of mitochondrial DNA
11. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
12. LEU(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): Genetic, biochemical, and morphological correlations in skeletal muscle
13. Presentation and clinical investigation of mitochondrial respiratory chain disease: A study of 51 patients
14. Mitochondrial DNA and disease
15. MELAS. An original case and clinical criteria for diagnosis
16. Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological, and genetic observations
17. Mitochondrial myopathy-encephalopathy-lactic acidosis and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children
18. SPECT findings in mitochondrial encephalomyopathy
19. MELAS presenting as migraine complicated by stroke: Case report
20. Mitochondrial DNA in migraine with aura
21. Mitochondrial DNA (mtDNA) diseases: Correlation of genotype to phenotype
22. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy
23. Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA
24. De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring
25. De novo mtDNA nt 8993 (T→G) mutation resulting in Leigh syndrome
26. Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation
27. Follow-up in carriers of the 'MELAS' mutation without strokes
28. The treatment of mitochondrial myopathies and encephalopathies