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Article

Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.

European journal of neurology - 1 Sept 2007

Motozaki Y, Komai K, Hirohata M, Asaka T, Ono K, Yamada M

Abstract excerpt

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17718674
DOI: 10.1111/j.1468-1331.2007.01905.x

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.PMID 17718674Read ↗

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.Semantic proximity Read ↗

Novel missense variants associated with GNE myopathySemantic proximity Read ↗

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.Semantic proximity Read ↗

Two recurrent mutations are associated with GNE myopathy in the North of Britain.Semantic proximity Read ↗

GNE myopathy: new name and new mutation nomenclature.Semantic proximity Read ↗

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

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

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

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

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.Semantic proximity Read ↗

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

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

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