Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference22 articles.
1. Clinical delineation and localization to chromosome 9p13.3–p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia;Kovach;Mol Genet Metab,2001
2. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone;Kimonis;Genet Med,2000
3. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001
4. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE);Kayashima;J Hum Genet,2002
5. Mutations in the beta-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy;Donner;Neuromuscul Disord,2002
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2. Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE);Biomolecules;2023-02-23
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