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

Different electrophysiology patterns in GNE myopathy.

Orphanet journal of rare diseases - 19 May 2022

Liu Xiangyi, Zhang Yingshuang, Zhang Shuo, Sun Aping, Zheng Danfeng, Fan Dongsheng, Liu Xiaoxuan

Abstract excerpt

BACKGROUND: GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported recently. We confirmed this feature and described the clinical phenotype and mutations of GNE myopathy in these rare cases. RESULTS: The absence of lower limb tendon reflexes, decreased...

Read the complete abstract on PubMed

Topics

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

Share to Distal Myopathies
Share to Electrophysiology
Share to Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35590323
DOI: 10.1186/s13023-022-02355-0
PMCID: PMC9118620

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

Different electrophysiology patterns in GNE myopathy.PMID 35590323Read ↗

Motor axonal neuropathy associated with GNE mutations.Semantic proximity Read ↗

Novel missense variants associated with GNE myopathySemantic proximity Read ↗

GNE myopathy in a Chinese male with a novel homozygous mutation.Semantic proximity Read ↗

Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.Semantic proximity Read ↗

Novel GNE mutations in three Chinese patients with typical GNE myo-pathy.Semantic proximity Read ↗

Genetic and Clinical Spectrum of GNE Myopathy in RussiaSemantic proximity Read ↗

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.Semantic proximity Read ↗

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.Semantic proximity Read ↗

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

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.Semantic proximity Read ↗

GNE myopathy in India.Semantic proximity Read ↗

GNE myopathy in Chinese population: hotspot and novel mutationsSemantic proximity Read ↗

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