GNE Myopathy: Two Clusters with History and Several Founder Mutations
Author:
Publisher
IOS Press
Subject
Clinical Neurology,Neurology
Reference13 articles.
1. Rimmed vacuole myopathy sparing the quadriceps - A unique disorder in Iranian Jews;Argov;J Neurol Sci,1984
2. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001
3. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation;Nonaka;J Neurol Sci,1981
4. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy;Nishino;Neurology,2002
5. GNEmyopathy: New name and new mutation nomenclature;Huizing;Neuromuscul Disord,2014
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