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

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).

Neuromuscular disorders : NMD - 1 Jan 2013

Mori-Yoshimura Madoka, Oya Yasushi, Hayashi Yukiko K, Noguchi Satoru, Nishino Ichizo, Murata Miho

Abstract excerpt

GNE myopathy is a rare and mildly progressive autosomal recessive myopathy caused by GNE mutations. Respiratory dysfunction has not been reported in GNE myopathy patients. In this study, we retrospectively reviewed the respiratory function of 39 severely affected GNE myopathy patients (13 men, 26 women) from medical records, and compared these parameters with various other patient characteristics (e.g., GNE...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Creatine Kinase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Distal Myopathies

Share to Genotype

Share to Mutation

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Respiratory System

Share to Vital Capacity

Source

Identifiers

PMID: 23127962
DOI: 10.1016/j.nmd.2012.09.007

Genes

GNE

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

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).PMID 23127962Read ↗

Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.Semantic proximity Read ↗

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.Semantic proximity Read ↗

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].Semantic proximity Read ↗

Nationwide patient registry for GNE myopathy in Japan.Semantic proximity Read ↗

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).Semantic proximity Read ↗

Gene analysis and clinical features of 22 GNE myopathy patients.Semantic proximity Read ↗

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.Semantic proximity Read ↗

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.Semantic proximity Read ↗

Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.Semantic proximity Read ↗

Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.Semantic proximity Read ↗

Complications in GNE myopathy patients: A nationwide repository questionnaire survey in JapanSemantic proximity Read ↗

Distal myopathy with rimmed vacuoles: Novel mutations in the GNE geneSemantic proximity Read ↗

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