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Article

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Annals of human genetics - 1 Sept 2020

Gotta Fabio, Lamp Merit, Geroldi Alessandro, Trevisan Lucia, Origone Paola, Fugazza Giuseppina, Fabbri Sabrina, Nesti Claudia, Rubegni Anna, Morani Federica, Santorelli Filippo Maria, Bellone Emilia, Mandich Paola

Abstract excerpt

Perrault syndrome is a rare disorder characterized by ovarian dysgenesis, bilateral sensorineural hearing loss and associated with mutations in six mitochondrial proteins. Additional neurological features were also described. Herein, we report on a 27-year-old woman with Perrault syndrome (PS), moderate ataxia and axonal sensory-motor peripheral neuropathy in whom we identified compound heterozygous mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32281099
DOI: 10.1111/ahg.12384

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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