Pathogenicity of the Homoplasmic m.8701A>G Variant Requires Confirmation

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

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

To the Editor: We read with interest the article by Zhu et al. about a family with dilated cardiomyopathy (dCMP) and arterial hypertension (AHT) in four members being attributed to the m.8701A>G variant in the ATP6 gene.[1] We have the following comments and concerns

Domaines: Sciences du Vivant [q-bio]

Josef Finsterer, Sinda Zarrouk-Mahjoub. Pathogenicity of the Homoplasmic m.8701A>G Variant Requires Confirmation. Chinese Medical Journal, 2016, ⟨10.4103/0366-6999.186655⟩. ⟨pasteur-01444599⟩