Neurology. 2002 Aug 13;59(3):451-4.

Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H.

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Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan.

Abstract

The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles. Seven out of nine patients had homozygous V572L mutation, one was a compound heterozygote with C303V and V572L mutations, and the remaining patient bore homozygous A631V mutation.

Comment in

Sweetening the pot in muscle: genetic defects of protein glycosylation causing muscle disease. [Neurology. 2002]
Sweetening the pot in muscle: genetic defects of protein glycosylation causing muscle disease.Karpati G, Holland P. Neurology. 2002 Dec 10; 59(11):1674-6.

PMID:: 12177386; [PubMed - indexed for MEDLINE]

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Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. [Neurology. 2004]
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Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H. Neurology. 2004 May 11; 62(9):1607-10.
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Cited by 8 PubMed Central articles

Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy. [Yonsei Med J. 2013]
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
Sim JE, Park HJ, Shin HY, Nam TS, Kim SM, Choi YC. Yonsei Med J. 2013 May 1; 54(3):578-82.
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression. [Case Rep Neurol. 2012]
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.
Ikeda-Sakai Y, Manabe Y, Fujii D, Kono S, Narai H, Omori N, Nishino I, Abe K. Case Rep Neurol. 2012 May; 4(2):120-5. Epub 2012 Jul 24.
Review Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle. [Acta Myol. 2011]
Review Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
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Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
Neurology. 2002 Aug 13 ;59(3):451-4.

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Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

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