Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome?

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

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

no abstract

Mots clés: Hepatocerebral; Mitochondrial depletion syndrome; Mutation; mpv17; mtDNA; Gene

Domaines: Sciences du Vivant [q-bio]; Neurobiologie; Génétique humaine

Josef Finsterer, Sinda Zarrouk-Mahjoub. Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome?. Molecular Genetics and Metabolism Reports, 2016, 9 (18), ⟨10.1016/j.ymgmr.2016.09.002⟩. ⟨pasteur-01457092⟩