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

Josef Finsterer; Sinda Zarrouk-Mahjoub

doi:10.1016/j.ymgmr.2016.09.002

Journal Articles Molecular Genetics and Metabolism Reports Year : 2016

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

(1) , (2)

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Josef Finsterer

Function : Correspondent author
PersonId : 1005753

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Krankenanstalt Rudolfstiftung

Sinda Zarrouk-Mahjoub

Function : Author

Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory

Abstract

no abstract

Keywords

Hepatocerebral Mitochondrial depletion syndrome Mutation mpv17 mtDNA Gene

Domains

Life Sciences [q-bio] Life Sciences [q-bio] Neurons and Cognition [q-bio.NC] Neurobiology Life Sciences [q-bio] Genetics Human genetics

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Submitted on : Monday, February 6, 2017-11:34:43 AM

Last modification on : Wednesday, October 28, 2020-9:52:04 AM

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pasteur-01457092 , version 1 (06-02-2017)

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Attribution - NonCommercial - NoDerivatives - CC BY 4.0

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HAL Id : pasteur-01457092 , version 1
DOI : 10.1016/j.ymgmr.2016.09.002
PUBMED : 27668186

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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⟩

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

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