Novel mutations of the GNE gene in distal myopathy with rimmed vacuoles presenting with very slow progression

Yasuko Ikeda-Sakai; Yasuhiro Manabe; Daiki Fujii; Syoichiro Kono; Hisashi Narai; Nobuhiko Omori; Ichizo Nishino; Koji Abe

doi:10.1159/000341561

Novel mutations of the GNE gene in distal myopathy with rimmed vacuoles presenting with very slow progression

Yasuko Ikeda-Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino, Koji Abe

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

We report novel compound heterozygous mutations of the UDP-N- acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients could stand and walk even 36, 34, and 39 years after onset, respectively, although affected individuals become wheelchair bound on average 12 years after onset of the disease. The clinical spectrum of DMRV seems to be wider than previously thought in terms of both the clinical course and the severity of the disease.

Original language	English
Pages (from-to)	120-125
Number of pages	6
Journal	Case Reports in Neurology
Volume	4
Issue number	2
DOIs	https://doi.org/10.1159/000341561
Publication status	Published - May 2012

Keywords

Distal myopathy with rimmed vacuoles
Sialic acid
UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase

ASJC Scopus subject areas

Clinical Neurology

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10.1159/000341561

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title = "Novel mutations of the GNE gene in distal myopathy with rimmed vacuoles presenting with very slow progression",

abstract = "We report novel compound heterozygous mutations of the UDP-N- acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients could stand and walk even 36, 34, and 39 years after onset, respectively, although affected individuals become wheelchair bound on average 12 years after onset of the disease. The clinical spectrum of DMRV seems to be wider than previously thought in terms of both the clinical course and the severity of the disease.",

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author = "Yasuko Ikeda-Sakai and Yasuhiro Manabe and Daiki Fujii and Syoichiro Kono and Hisashi Narai and Nobuhiko Omori and Ichizo Nishino and Koji Abe",

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T1 - Novel mutations of the GNE gene in distal myopathy with rimmed vacuoles presenting with very slow progression

AU - Ikeda-Sakai, Yasuko

AU - Manabe, Yasuhiro

AU - Fujii, Daiki

AU - Kono, Syoichiro

AU - Narai, Hisashi

AU - Omori, Nobuhiko

AU - Nishino, Ichizo

AU - Abe, Koji

PY - 2012/5

Y1 - 2012/5

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AB - We report novel compound heterozygous mutations of the UDP-N- acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients could stand and walk even 36, 34, and 39 years after onset, respectively, although affected individuals become wheelchair bound on average 12 years after onset of the disease. The clinical spectrum of DMRV seems to be wider than previously thought in terms of both the clinical course and the severity of the disease.

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KW - Sialic acid

KW - UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase

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Novel mutations of the GNE gene in distal myopathy with rimmed vacuoles presenting with very slow progression

Abstract

Keywords

ASJC Scopus subject areas

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