Results 141 to 150 of about 2,890 (187)

Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene

Neurology, 2002
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.
H, Tomimitsu, K, Ishikawa, J, Shimizu, N, Ohkoshi, I, Kanazawa, H, Mizusawa   +5 more
openaire   +2 more sources

A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees

Annals of Neurology, 2002
AbstractDistal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood and sparing of the quadricep muscles. The UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase (GNE) gene was recently identified as the ...
Aki, Arai, Keiko, Tanaka, Takeshi, Ikeuchi, Shuichi, Igarashi, Hisashi, Kobayashi, Tomoya, Asaka, Hidetoshi, Date, Masaaki, Saito, Hajime, Tanaka, Sari, Kawasaki, Eiichiro, Uyama, Hidehiro, Mizusawa, Nobuyoshi, Fukuhara, Shoji, Tsuji   +13 more
openaire   +2 more sources

Late‐onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

Muscle & Nerve, 2005
AbstractWe report two brothers from a Japanese family with a late‐onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded.
Naoki, Suzuki, Masashi, Aoki, Hideki, Mizuno, Yoshiaki, Onodera, Toshiaki, Takahashi, Tetsuya, Nagata, Maki, Tateyama, Yasuto, Itoyama   +7 more
openaire   +2 more sources

Novel missense mutation and large deletion of GNE gene in autosomal‐recessive inclusion‐body myopathy

Muscle & Nerve, 2003
AbstractThe UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) gene is the causative gene for autosomal‐recessive hereditary inclusion‐body myopathy (h‐IBM). Two sisters affected with autosomal‐recessive h‐IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1—9, and a R162C amino ...
Roberto, Del Bo, Pierluigi, Baron, Alessandro, Prelle, Massimo, Serafini, Maurizio, Moggio, Alessio Di, Fonzo, Marina, Castagni, Nereo, Bresolin, Giacomo Pietro, Comi   +8 more
openaire   +2 more sources

Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy

Neuromuscular Disorders, 2005
Autosomal recessive hereditary inclusion body myopathy (AR-HIBM), with sparing of the quadriceps, is characterized by adult-onset, with weakness and atrophy of distal lower limb muscles, and typical histopathological findings in muscle biopsy. AR hIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase ...
R, Amouri, A, Driss, K, Murayama, M, Kefi, I, Nishino, F, Hentati   +5 more
openaire   +2 more sources

Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

Muscle & Nerve, 2006
AbstractDistal myopathy with rimmed vacuoles (DMRV) is an early‐adult‐onset, distal myopathy caused by a mutation of the UDP‐N‐acetylglucosamine 2 epimerase/N‐acetylmannosamine kinase (GNE) gene. We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N)
Teerin, Liewluck, Theeraphong, Pho-Iam, Chanin, Limwongse, Wanna, Thongnoppakhun, Kanokwan, Boonyapisit, Natte, Raksadawan, Kumiko, Murayama, Yukiko K, Hayashi, Ichizo, Nishino, Tumtip, Sangruchi   +9 more
openaire   +2 more sources

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

Revue neurologique, 2008
Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement. Among recessive forms, the myopathy resulting from mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, often designated as Nonaka myopathy, primarily affect young adults and are characterized by ...
A, Béhin, O, Dubourg, P, Laforêt, C, Pêcheux, R, Bernard, N, Lévy, B, Eymard   +6 more
openaire   +1 more source

Longitudinal study for GNE gene (ClinBio-GNE)

Neuromuscular Disorders, 2015
T. Gidaro, D. Duchene, G. Ollivier, V. Decostre, J.Y. Hogrel, P. Carlier, A. Behin, L. Servais   +7 more
openaire   +1 more source

[GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University, 2013
To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV).Five patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced.
Xiang-hui, Lu, Chuan-qiang, Pu, Qiang, Shi, Wen-jing, Luo, Ke, Li   +4 more
openaire   +1 more source

MicroRNA regulation of the GNE gene

Neuromuscular Disorders, 2016
I. Moshkovitz, M. Becker-Cohen, I. Eisenberg, S. Mitrani-Rosenbaum   +3 more
openaire   +1 more source