A Case of Hereditary Inclusion Body Myopathy: 1 Patient, 2 Novel Mutations
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Clinical Neurology,Neurology,General Medicine
Reference38 articles.
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2. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation;Nonaka;J Neurol Sci,1981
3. ‘Rimmed vacuole myopathy’ sparing the quadriceps: a unique disorder in Iranian Jews;Argov;J Neurol Sci,1984
4. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps;Eisenberg;Hum Mutat,2003
5. An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene;Broccolini;Neurology,2002
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1. Understanding pathophysiology of GNE myopathy and current progress towards drug development;Journal of Biosciences;2024-02-19
2. Mutation Update forGNEGene Variants Associated with GNE Myopathy;Human Mutation;2014-07-17
3. Prevalence ofGNEp.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran;Clinical Genetics;2013-02-21
4. UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis;Topics in Current Chemistry;2013
5. Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria;Glycobiology;2009-11-16
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