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 journalArticle

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 languageEnglish
Pages (from-to)120-125
Number of pages6
JournalCase Reports in Neurology
Volume4
Issue number2
DOIs
Publication statusPublished - May 2012

Fingerprint

Mutation
Wheelchairs
Genes
Nonaka type Distal myopathy
UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Novel mutations of the GNE gene in distal myopathy with rimmed vacuoles presenting with very slow progression. / Ikeda-Sakai, Yasuko; Manabe, Yasuhiro; Fujii, Daiki; Kono, Syoichiro; Narai, Hisashi; Omori, Nobuhiko; Nishino, Ichizo; Abe, Koji.

In: Case Reports in Neurology, Vol. 4, No. 2, 05.2012, p. 120-125.

Research output: Contribution to journalArticle

Ikeda-Sakai, Yasuko ; Manabe, Yasuhiro ; Fujii, Daiki ; Kono, Syoichiro ; Narai, Hisashi ; Omori, Nobuhiko ; Nishino, Ichizo ; Abe, Koji. / Novel mutations of the GNE gene in distal myopathy with rimmed vacuoles presenting with very slow progression. In: Case Reports in Neurology. 2012 ; Vol. 4, No. 2. pp. 120-125.
@article{e99dd6c9dac5481b89e1c5a1d112409e,
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.",
keywords = "Distal myopathy with rimmed vacuoles, Sialic acid, UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase",
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",
year = "2012",
month = "5",
doi = "10.1159/000341561",
language = "English",
volume = "4",
pages = "120--125",
journal = "Case Reports in Neurology",
issn = "1662-680X",
publisher = "S. Karger AG",
number = "2",

}

TY - JOUR

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

N2 - 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.

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.

KW - Distal myopathy with rimmed vacuoles

KW - Sialic acid

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

UR - http://www.scopus.com/inward/record.url?scp=84866707129&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84866707129&partnerID=8YFLogxK

U2 - 10.1159/000341561

DO - 10.1159/000341561

M3 - Article

C2 - 22855677

AN - SCOPUS:84866707129

VL - 4

SP - 120

EP - 125

JO - Case Reports in Neurology

JF - Case Reports in Neurology

SN - 1662-680X

IS - 2

ER -