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

We describe the clinical phenotype and muscle biopsy findings associated with the first reported heterozygous nonsense <i>TWNK</i> variant, thus expanding the current knowledge of Twinkle-related disorders. Our findings are in line with the high intrafamilial clinical variability associated with <i>TWNK</i> mutations. Although PEO and skeletal muscle involvement remain hallmarks of the disease, extra-muscular features should be carefully assessed.

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Publication Details

Journal
Biomolecules
Published
2025-09-18
DOI
https://doi.org/10.3390/biom15091337
Primary Topic
Mitochondrial Function and Pathology
Type
article
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article

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

Gian Nicola Gallus, Nicola De Stefano, Gianna Berti, Alessandro Malandrini et al.
Biomolecules
Mitochondrial Function and Pathology
article

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

Gian Nicola Gallus, Nicola De Stefano, Gianna Berti, Alessandro Malandrini, Silvia Bianchi, Filippo Maria Santorelli, Diego Lopergolo
article en

Abstract

We describe the clinical phenotype and muscle biopsy findings associated with the first reported heterozygous nonsense <i>TWNK</i> variant, thus expanding the current knowledge of Twinkle-related disorders. Our findings are in line with the high intrafamilial clinical variability associated with <i>TWNK</i> mutations. Although PEO and skeletal muscle involvement remain hallmarks of the disease, extra-muscular features should be carefully assessed.

BiomoleculesVol. 15(9)
University of Siena (IT), Fondazione Stella Maris (IT), Azienda Ospedaliera Universitaria Senese (IT)
Openalex Percentile: Top 78%
Mitochondrial Function and Pathology
DOIOpen Access PDFOpenAlex
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The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases — Gian Nicola Gallus, Nicola De Stefano, et al. · Biomolecules (2025) | TGRS Research Map | TGRS