Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.

Journal of child neurology - 1 Feb 2016

Pena Joaquin A, Lotze Timothy, Yang Yaping, Umana Luis, Walkiewicz Magdalena, Hunter Jill V, Scaglia Fernando

Abstract excerpt

Disease-related mutations in the mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene encoding a critical enzyme for mitochondrial translation have been rarely reported and are described in association with Leigh syndrome and combined oxidative phosphorylation deficiency. Symptoms include developmental delay, followed by ataxia and spasticity manifesting at later stages. A man had a clinical picture...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Demyelinating Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Follow-Up Studies

Share to Hydroxymethyl and Formyl Transferases

Share to Magnetic Resonance Imaging

Share to Mitochondrial Diseases

Share to Spinal Cord

Source

Identifiers

PMID: 26060307
DOI: 10.1177/0883073815587946

Genes

MTFMT

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.PMID 26060307Read ↗

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.Semantic proximity Read ↗

Clinical and Radiological Characterization of TEFM-Associated Neurological Disorder.Semantic proximity Read ↗

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Semantic proximity Read ↗

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.Semantic proximity Read ↗

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.Semantic proximity Read ↗

Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype.Semantic proximity Read ↗

A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.Semantic proximity Read ↗

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.Semantic proximity Read ↗

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.Semantic proximity Read ↗

A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.Semantic proximity Read ↗

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.Semantic proximity Read ↗

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.