Assessment of the phenotype genotype variability and correlation in m.3243A > G mutation carriers requires prospective studies

Josef Finsterer (1) , Sinda Zarrouk-Mahjoub (2)

1 Krankenanstalt Rudolfstiftung
2 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory

Mots clés: Mitochondrial DNA; MELAS; Mutation; Phenotype; Genotype; Clinical manifestations

Domaines: Sciences du Vivant [q-bio]; Biologie cellulaire; Génétique

Josef Finsterer, Sinda Zarrouk-Mahjoub. Assessment of the phenotype genotype variability and correlation in m.3243A > G mutation carriers requires prospective studies. Molecular Genetics and Metabolism Reports, 2016, 8, pp.33. ⟨10.1016/j.ymgmr.2016.07.001⟩. ⟨pasteur-01452827⟩