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Article

The phenotypic variability and natural history of NARS2 associated disease.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2021

Sofou Kalliopi, Kollberg Gittan, Hedberg-Oldfors Carola, Oldfors Anders

Abstract excerpt

INTRODUCTION: The phenotypic variability of NARS2 associated disease is vast, yet not thoroughly explored. We present the phenotypic and genetic features of 2 siblings with early-onset mitochondrial encephalopathy due to pathogenic variant in NARS2, along with the results from a systematic literature review. AIMS: To better delineate the phenotypic variability and natural history of NARS2 associated disease....

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PMID: 33596490
DOI: 10.1016/j.ejpn.2021.01.012

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