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Teaching Video NeuroImage: TWNK Mutation Causes Chronic Progressive External Ophthalmoplegia and Cerebellar Ataxia: A POLG-Like Phenotype.

Neurology - 12 Mar 2024

Fraiman Pedro H A, Silva Thiago Y T, Pedroso José Luiz, Barsottini Orlando G P

Abstract excerpt

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Topics

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Share to Cerebellar Ataxia
Share to DNA, Mitochondrial
Share to DNA Polymerase gamma
Share to POLG gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Ophthalmoplegia

Share to Ophthalmoplegia, Chronic Progressive External

Share to Phenotype

Source

Identifiers

PMID: 38315955
DOI: 10.1212/WNL.0000000000209186

Genes

POLG
TWNK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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