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Article

GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.

Journal of neuromuscular diseases - 27 May 2016

Papadimas G K, Evilä A, Papadopoulos C, Kararizou E, Manta P, Udd B

Abstract excerpt

BACKGROUND: GNE-myopathy is increasingly diagnosed in different ethnicities worldwide. No clear genotype-phenotype correlation has been established to date. CASE REPORTS: We describe two affected members of the same family from Balkan population carrying an already known homozygous pathogenic mutation in the kinase domain of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamime kinase (GNE) gene. The...

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Source

Identifiers

PMID: 27854221
DOI: 10.3233/JND-160154

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.

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GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.PMID 27854221Read ↗

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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 ↗

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