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Article

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

BMC medical genetics - 31 Mar 2020

Kume Kodai, Morino Hiroyuki, Miyamoto Ryosuke, Matsuda Yukiko, Ohsawa Ryosuke, Kanaya Yuhei, Tada Yui, Kurashige Takashi, Kawakami Hideshi

Abstract excerpt

BACKGROUND: The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perrault syndrome 5. Perrault syndrome is characterized by sensorineural hearing loss in both males...

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Identifiers

PMID: 32234020
DOI: 10.1186/s12881-020-01002-4
PMCID: PMC7110654

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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