Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Broadening the phenotype of the TWNK gene associated Perrault syndrome.

BMC medical genetics - 18 Dec 2019

Fekete Bálint, Pentelényi Klára, Rudas Gabor, Gál Anikó, Grosz Zoltán, Illés Anett, Idris Jimoh, Csukly Gabor, Domonkos Andor, Molnar Maria Judit

Abstract excerpt

BACKGROUND: Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Helicases
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mitochondrial Proteins

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 31852434
DOI: 10.1186/s12881-019-0934-4
PMCID: PMC6921552

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Broadening the phenotype of the TWNK gene associated Perrault syndrome.PMID 31852434Read ↗

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?Semantic proximity Read ↗

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

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Semantic proximity Read ↗

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.Semantic proximity Read ↗

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.Semantic proximity Read ↗

The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.Semantic proximity Read ↗

Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.Semantic proximity Read ↗

The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications.Semantic proximity Read ↗

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.Semantic proximity Read ↗

The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classificationsSemantic proximity Read ↗

Clinical and Radiological Characterization of TEFM-Associated Neurological Disorder.Semantic proximity Read ↗

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.