A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition

Abstract Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder caused by pathogenic variants in the TIMM8A gene. TIMM8A, also known as Deafness-Dystonia Peptide-1 (DDP1) is a mitochondrial intermembrane space protein involved in the import and insertion of hydrophob...

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Bibliographic Details
Main Authors: Ignacio Ventura, Francisco Revert-Ros, Fernando Revert, Jesús Ángel Prieto-Ruiz, José Miguel Hernández-Andreu
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mohr-Tranebjaerg syndrome
TIMM8A mutation
Dystonia
Iron deposition
Basal ganglia
Mitochondrial dysfunction
Online Access:https://doi.org/10.1186/s13023-025-03868-0
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