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CHCHD2 rescues the mitochondrial dysfunction in iPSC-derived neurons from patient with Mohr-Tranebjaerg syndrome.
Huang Y, Chen Z, Deng W, Jiang Y, Pan Y, Yuan Z, Hu H, Wu Y, Hu Y. Huang Y, et al. Cell Death Dis. 2025 Mar 12;16(1):173. doi: 10.1038/s41419-025-07472-9. Cell Death Dis. 2025. PMID: 40075073 Free PMC article.
Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the Translocase of Inner Mitochondrial Membrane 8A (TIMM8A) gene, which encodes TIMM8a, a protein localized to the mitochondrial intermembrane space …
Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the Tran …
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q. Wang H, et al. BMC Med Genet. 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3. BMC Med Genet. 2019. PMID: 30634948 Free PMC article.
BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. ...
BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early- …
A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.
Ventura I, Revert-Ros F, Revert F, Prieto-Ruiz JÁ, Hernández-Andreu JM. Ventura I, et al. Orphanet J Rare Dis. 2025 Jul 1;20(1):327. doi: 10.1186/s13023-025-03868-0. Orphanet J Rare Dis. 2025. PMID: 40597358 Free PMC article.
Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder caused by pathogenic variants in the TIMM8A gene. ...This report highlights a novel TIMM8A mutation associated with Mohr-Tranebjaerg syndrome, present …
Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder caused by pathogenic variants i …
Identification and analysis of deletion breakpoints in four Mohr-Tranebjaerg syndrome (MTS) patients.
Rendtorff ND, Karstensen HG, Lodahl M, Tolmie J, McWilliam C, Bak M, Tommerup N, Nazaryan-Petersen L, Kunst H, Wong M, Joss S, Carelli V, Tranebjærg L. Rendtorff ND, et al. Sci Rep. 2022 Sep 2;12(1):14959. doi: 10.1038/s41598-022-18040-y. Sci Rep. 2022. PMID: 36056138 Free PMC article.
Mohr-Tranebjaerg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. ...
Mohr-Tranebjaerg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, follo …
Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants.
Coenen VA, Rijntjes M, Sajonz B, Piroth T, Prokop T, Jost W, Trippel M, Urbach H, Reinacher PC. Coenen VA, et al. J Neurol Surg A Cent Eur Neurosurg. 2019 Jan;80(1):44-48. doi: 10.1055/s-0038-1669472. Epub 2018 Oct 5. J Neurol Surg A Cent Eur Neurosurg. 2019. PMID: 30290379
Dystonic symptoms, especially a protrusion of the tongue and bilateral hand tremor, had not responded to botulinum toxin therapy. We diagnosed Mohr-Tranebjaerg syndrome (MTS). METHODS AND MATERIAL: Deep brain stimulation (DBS) of the bilateral globus pallidu …
Dystonic symptoms, especially a protrusion of the tongue and bilateral hand tremor, had not responded to botulinum toxin therapy. We diagnos …
Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjaerg syndrome.
Kang Y, Anderson AJ, Jackson TD, Palmer CS, De Souza DP, Fujihara KM, Stait T, Frazier AE, Clemons NJ, Tull D, Thorburn DR, McConville MJ, Ryan MT, Stroud DA, Stojanovski D. Kang Y, et al. Elife. 2019 Nov 4;8:e48828. doi: 10.7554/eLife.48828. Elife. 2019. PMID: 31682224 Free PMC article.
Mutations in TIMM8A cause a neurodegenerative disease, Mohr-Tranebjaerg syndrome (MTS), which is characterised by sensorineural hearing loss, dystonia and blindness. ...
Mutations in TIMM8A cause a neurodegenerative disease, Mohr-Tranebjaerg syndrome (MTS), which is characterised by senso …
Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.
Yeh YH, Hsieh MY, Lee WI, Huang JL, Chen LC, Yeh KW, Ou LS, Yao TC, Wu CY, Lin SJ. Yeh YH, et al. Front Immunol. 2020 Sep 4;11:2001. doi: 10.3389/fimmu.2020.02001. eCollection 2020. Front Immunol. 2020. PMID: 33013854 Free PMC article.
Two patients with contiguous gene deletion syndrome (CGS) encompassing the TIMM8A/DDP1 gene presented with early-onset progressive post-lingual sensorineural Deafness, gradual Dystonia, and Optic Neuronopathy syndrome (DDON) or Mohr-Tranebjaerg syndrome (MTS) …
Two patients with contiguous gene deletion syndrome (CGS) encompassing the TIMM8A/DDP1 gene presented with early-onset progressive post-ling …
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
Neighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R. Neighbors A, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1121. doi: 10.1002/mgg3.1121. Epub 2020 Jan 5. Mol Genet Genomic Med. 2020. PMID: 31903733 Free PMC article.
BACKGROUND: The rare, X-linked neurodegenerative disorder, Mohr-Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. ...
BACKGROUND: The rare, X-linked neurodegenerative disorder, Mohr-Tranebjaerg syndrome (also called deafness-dystonia-opt …
A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome.
Hanafusa H, Ishida Y, Bo R, Nishiyama M, Nozu K, Nagase H, Awano H. Hanafusa H, et al. Brain Dev. 2026 Jun;48(3):104525. doi: 10.1016/j.braindev.2026.104525. Epub 2026 Mar 24. Brain Dev. 2026. PMID: 41880689
BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative disorder caused by pathogenic variants in TIMM8A. ...
BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative disorder caused by pathogenic va …
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