Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT ‐related mitochondrial disease

Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants in MTFMT have been described in association with clinical presentations with Leigh syndrome, as well with as multisystem involvement (particularly cardiac and ocu...

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Detalles Bibliográficos
Autores principales: Howard, Caoimhe, Dev‐Borman, Arundhati, Stokes, John, O'Rourke, Declan, Gillespie, Ciara, Twomey, Eilish, Knerr, Ina, Boruah, Ritma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981406/
https://www.ncbi.nlm.nih.gov/pubmed/36873085
http://dx.doi.org/10.1002/jmd2.12355

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