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 | |
| Publication status | Published - May 2012 |
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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 journal › Article
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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 -