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Clinical Genetics, ISSN 0009-9163, 04/2018, Volume 93, Issue 4, pp. 925 - 928
Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopathy, lactoacidosis and stroke‐like... 
heteroplasmy | MELAS | m.3243A>G | mitochondria | DIAGNOSIS | MANAGEMENT | LEUKOCYTES | MITOCHONDRIAL-DNA HETEROPLASMY | GENETICS & HEREDITY | m.3243A > G | DEAFNESS | ENCEPHALOMYOPATHY | MTDNA MUTATION | BLOOD | Mortality | Genetic aspects | Mitochondria | Mutation | MELAS syndrome | Heteroplasmy
Journal Article
Oncogene, ISSN 0950-9232, 08/2006, Volume 25, Issue 34, pp. 4647 - 4662
Journal Article
Mitochondrion, ISSN 1567-7249, 05/2019, Volume 46, pp. 69 - 72
Two patients with an m.8340G>A mitochondrial DNA variant have been reported with one patient showing ptosis, ophthalmoparesis and myopathy at 53% heteroplasmy... 
MYOCLONIC EPILEPSY | MERRF | MTDNA | DISEASE | GENETICS & HEREDITY | MUSCLE | DEAFNESS | DYSFUNCTION | RAGGED-RED FIBERS | 3243A-GREATER-THAN-G | CELL BIOLOGY | Deafness | Genetic aspects | Mitochondrial DNA | Ophthalmology | Molecular genetics
Journal Article
Annual Review of Biochemistry, ISSN 0066-4154, 07/2010, Volume 79, Issue 1, pp. 683 - 706
Journal Article
BBA - Bioenergetics, ISSN 0005-2728, 11/2015, Volume 1847, Issue 11, pp. 1401 - 1411
Journal Article