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

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 s...

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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Kume, Kodai, Morino, Hiroyuki, Miyamoto, Ryosuke, Matsuda, Yukiko, Ohsawa, Ryosuke, Kanaya, Yuhei, Tada, Yui, Kurashige, Takashi, Kawakami, Hideshi
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
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Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7110654/
https://ncbi.nlm.nih.gov/pubmed/32234020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01002-4
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