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

Abstract 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 cardia...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2023-03-01
Serie:	JIMD Reports
Soggetti:	autonomic instability Leigh syndrome MTFMT optic atrophy
Accesso online:	https://doi.org/10.1002/jmd2.12355
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!