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

Genetic and Clinical Spectrum of GNE Myopathy in Russia

31 Oct 2022

Abstract excerpt

GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data. In our cohort, 10 novel variants were found, including 2 frameshift variants and 2 large...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Cell Adhesion Molecules Research
Share to Inflammatory Myopathies and Dermatomyositis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36360228
DOI: 10.3390/genes13111991

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and Clinical Spectrum of GNE Myopathy in RussiaPMID 36360228Read ↗

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

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

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

GNE myopathy in India.Semantic proximity Read ↗

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

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

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

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.Semantic proximity Read ↗

Novel missense variants associated with GNE myopathySemantic proximity Read ↗

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.Semantic proximity Read ↗

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

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

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