Синдром MERRF

Also known as Fukuhara syndrome (disorder), Myoclonic epilepsy - ragged red fibers (disorder), Myoclonus epilepsy AND ragged red fibers (disorder), Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome), myoclonic epilepsy with ragged red fibers

Research

593 papers

Pharmacotherapeutic management of epilepsy in MERRF syndrome.Expert opinion on pharmacotherapy · 2019
Management of epilepsy in MERRF syndrome.Seizure · 2017
MERRF.1993
Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.Hearing research · 2023
Ganglionopathies Associated with MERRF Syndrome: An Original Report.Journal of neuromuscular diseases · 2020

via PubMed

Wikidata facts

Image: Ragged red fibers in MELAS.jpg

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Article · Русский

Синдром MERRF (англ. Myoclonic Epilepsy with Ragged Red Fibers, миоклоническая эпилепсия с рваными мышечными волокнами) — редкое митохондриальное заболевание, вызываемое мутациями в следующих генах: , MTTL1, , , , MTTF. Симптомы MERRF также проявляются при мутациях гена .

Abstract from DBpedia / Wikipedia · CC BY-SA