« Previous
Next »
Journal of the Neurological Sciences
Volume 291, Issue 1
, Pages 17-21
, 15 April 2010
Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families
Reference
- . Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Acta Neurol Scand. 2007;116:1–14
- Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord. 1993;3:43–50
- . Clinical features of A3243G mitochondrial tRNA mutation. Brain. 2004;26:459–462
- . The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations. Mitochondrion. 2004;4:503–520
- . Mitochondrial disease. Lancet. 2006;368:70–82
- . Mitochondrial DNA mutations in the pathogenesis of human disease. Mol Med Today. 2000;6:425–432
- . Impact of disease-related mitochondrial mutations on tRNA structure and function. Trends Biochem Sci. 2003;28:605–611
- Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. Ann Neurol. 2007;62:278–287
- . The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. Neurology. 1997;49:1331–1334
- . A simple salting out procedure for extracting DNA from human nucleated cell. Nucleic Acids Res. 1988;16:1215
- . An inexpensive alternative to glassmilk for DNA purification. Trends Genet. 1995;11:8
- . Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci. 2008;1142:133–158
- Clinical relevance of heteroplasmic concentration of mitochondrial A3243G mutation in leukocytes. Diabetologia. 1999;42:1439–1443
- . Tissue specific distribution of the 3243A-
>
G mtDNA mutation. J Med Genet. 2006;43:671–677 - . Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol. 1994;9:4–13
- . Overview on visceral manifestations of mitochondrial disorders. Neth J Med. 2006;64:61–71
- Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy. Brain Dev. 2008;30:430–433
- Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet. 2004;12:778–781
- The study of mitochondrial A3243G mutation in different samples. Mitochondrion. 2009;9:139–143
- . The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain. 1998;121:1889–1894
PII: S0022-510X(10)00038-9
doi: 10.1016/j.jns.2010.01.012
© 2010 Elsevier B.V. All rights reserved.
« Previous
Next »
Journal of the Neurological Sciences
Volume 291, Issue 1
, Pages 17-21
, 15 April 2010
