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Article

A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.

Journal of neuromuscular diseases - 1 Jan 2023

Murata Daisuke, Grunseich Christopher, Iijima Miho, Chan David, Corse Andrea, Hoke Ahmet, Schindler Alice, Sesaki Hiromi, Roda Ricardo H

Abstract excerpt

BACKGROUND: The number of mutations in nuclear encoded genes causing mitochondrial disease is ever increasing. Identification of these mutations is particularly important in the diagnosis of neuromuscular disorders as their presentation may mimic other acquired disorders.We present a novel heterozygous variant in mitochondrial fission factor (MFF) which mimics myasthenia gravis. OBJECTIVE: To determine if the MFF...

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Identifiers

PMID: 36314214
DOI: 10.3233/JND-221532

Genes

MFF

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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