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Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2013, Volume 84, Issue 8, pp. 936 - 938
Journal Article
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 05/2019, Volume 400, pp. 135 - 141
Journal Article
JAMA Neurology, ISSN 2168-6149, 08/2016, Volume 73, Issue 8, pp. 990 - 993
IMPORTANCE: The regulatory factors explaining the wide spectrum of clinical phenotypes for mitochondrial 3243A>G mutation are not known. Crosstalk between... 
TRANSMISSION | MYOPATHIES | MTDNA | TISSUE DISTRIBUTION | DISEASE | DNA DELETIONS | CLINICAL NEUROLOGY | MELAS Syndrome - genetics | Mitochondrial Diseases - genetics | Phenotype | DNA, Mitochondrial - genetics | Twins, Monozygotic - genetics | Humans | Middle Aged | Adult | Male | Aged | Mutation - genetics
Journal Article
Journal of Neurology, ISSN 0340-5354, 3/2014, Volume 261, Issue 3, pp. 504 - 510
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 11887 - 9
Journal Article
Journal of Cardiovascular Magnetic Resonance, ISSN 1097-6647, 05/2015, Volume 17, Issue 1, p. 40
Background: Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory... 
CPEO | Mitochondrial myopathy | MELAS | Cardiovascular magnetic resonance | Cardiomyopathy | DIAGNOSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | MANAGEMENT | EUROPEAN-SOCIETY | LEFT-VENTRICULAR HYPERTROPHY | HEART | TASK-FORCE | DISEASE | MUTATION | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | FRIEDREICH ATAXIA | Kearns-Sayre Syndrome - pathology | Predictive Value of Tests | Ophthalmoplegia, Chronic Progressive External - pathology | Prevalence | Prospective Studies | Ventricular Function, Left | Humans | Middle Aged | Male | Ophthalmoplegia, Chronic Progressive External - genetics | Case-Control Studies | Mitochondrial Myopathies - epidemiology | MELAS Syndrome - genetics | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Ventricular Remodeling | Hypertrophy, Left Ventricular - genetics | MERRF Syndrome - genetics | Hypertrophy, Left Ventricular - pathology | Adult | Female | Genetic Predisposition to Disease | MERRF Syndrome - pathology | Kearns-Sayre Syndrome - genetics | Cardiomyopathies - pathology | Myocardium - pathology | Mitochondrial Myopathies - physiopathology | Mitochondrial Myopathies - pathology | Germany - epidemiology | Stroke Volume | Magnetic Resonance Imaging | Cardiomyopathies - epidemiology | Mitochondrial Myopathies - genetics | Phenotype | MELAS Syndrome - pathology | Aged | Hypertrophy, Left Ventricular - physiopathology | Care and treatment | Arrhythmia | Cardiac patients | Epilepsy | Electrocardiogram | Physiological aspects | Electrocardiography | Genetic aspects
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 2/2016, Volume 263, Issue 2, pp. 257 - 262
Journal Article
BRAIN & DEVELOPMENT, ISSN 0387-7604, 02/2014, Volume 36, Issue 2, pp. 180 - 182
The m.3302A > G mutation in the mitochondrial tRNA(Leu(UUR)) gene has been identified in only 12 patients from 6 families, all manifesting adult-onset slowly... 
A3302G MUTATION | m.3302A > G mutation | DNA | DISEASE | MELAS | CLINICAL NEUROLOGY | Myopathy | MELAS Syndrome - genetics | Phenotype | MELAS Syndrome - diagnosis | Mitochondria - genetics | Humans | Male | Mutation - genetics | Child | RNA, Transfer, Leu - genetics
Journal Article