Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder caused by TIMM8A loss of function. It is characterized by sensorineural hearing loss in childhood, progressive optic atrophy in early adulthood, early onset dementia and psychiatric symptoms of variable expressivity. We present a fami...

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Detalles Bibliográficos
Autores principales: Sousa, Eulalia, Abreu, Maria, Tkachenko, Nataliya, Rocha, João, Falcão Reis, Cláudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267341/
https://www.ncbi.nlm.nih.gov/pubmed/37325222
http://dx.doi.org/10.3389/fneur.2023.1161940

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267341/
https://www.ncbi.nlm.nih.gov/pubmed/37325222
http://dx.doi.org/10.3389/fneur.2023.1161940

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