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

Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.

Journal of the peripheral nervous system : JPNS - 1 Dec 2016

Hirano Makito, Oka Nobuyuki, Hashiguchi Akihiro, Ueno Shuichi, Sakamoto Hikaru, Takashima Hiroshi, Higuchi Yujiro, Kusunoki Susumu, Nakamura Yusaku

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a complex of peripheral nervous system disorders. CMT type 2U (CMT2U) is an autosomal dominant (AD) disease caused by mutations in the MARS gene encoding methionyl-tRNA synthetase; this disease has thus been newly called AD-CMTax-MARS. A few families with mutations in the MARS gene have been reported, without detailed histopathological findings. We describe a 70-year-old woman...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Microscopy, Electron

Share to Mutation

Share to Neural Conduction

Share to Sural Nerve

Source

Identifiers

PMID: 27717217
DOI: 10.1111/jns.12193

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.PMID 27717217Read ↗

Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.Semantic proximity Read ↗

Recent advances in the genetic neuropathies.Semantic proximity Read ↗

[Pathology of Charcot-Marie-Tooth Disease].Semantic proximity Read ↗

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.Semantic proximity Read ↗

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.Semantic proximity Read ↗

[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement].Semantic proximity Read ↗

Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.Semantic proximity Read ↗

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.Semantic proximity Read ↗

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.Semantic proximity Read ↗

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.Semantic proximity Read ↗

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