Literature DB >> 12913203

GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

I Yabe1, T Higashi, S Kikuchi, H Sasaki, T Fukazawa, K Yoshida, K Tashiro.   

Abstract

The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.

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Year:  2003        PMID： 12913203     DOI： 10.1212/01.wnl.0000061520.63546.8f

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  10 in total

1.  Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Authors:  Byoung Joon Kim; Chang-Seok Ki; Jong-Won Kim; Duk Hyun Sung; Young-Chul Choi; Seung Hyun Kim
Journal:  J Hum Genet       Date:  2005-12-22       Impact factor: 3.172

2.  Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.

Authors:  Huaying Cai; Ichiro Yabe; Kazunori Sato; Takahiro Kano; Masakazu Nakamura; Hideki Hozen; Hidenao Sasaki
Journal:  J Neurol       Date:  2012-02-17       Impact factor: 4.849

Review 3.  Mutation update for GNE gene variants associated with GNE myopathy.

Authors:  Frank V Celeste; Thierry Vilboux; Carla Ciccone; John Karl de Dios; May Christine V Malicdan; Petcharat Leoyklang; John C McKew; William A Gahl; Nuria Carrillo-Carrasco; Marjan Huizing
Journal:  Hum Mutat       Date:  2014-08       Impact factor: 4.878

Review 4.  Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

Authors:  Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino
Journal:  Curr Neurol Neurosci Rep       Date:  2005-02       Impact factor: 5.081

Review 5.  Hereditary inclusion body myopathy: a decade of progress.

Authors:  Marjan Huizing; Donna M Krasnewich
Journal:  Biochim Biophys Acta       Date:  2009-07-24

Review 6.  Distal myopathies.

Authors:  Mazen M Dimachkie; Richard J Barohn
Journal:  Neurol Clin       Date:  2014-05-15       Impact factor: 3.806

7.  Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

Authors:  Natalya Kurochkina; Tal Yardeni; Marjan Huizing
Journal:  Glycobiology       Date:  2009-11-16       Impact factor: 4.313

Review 8.  UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Authors:  Stephan Hinderlich; Wenke Weidemann; Tal Yardeni; Rüdiger Horstkorte; Marjan Huizing
Journal:  Top Curr Chem       Date:  2015

Review 9.  Insights into muscle degeneration from heritable inclusion body myopathies.

Authors:  Sabine Krause
Journal:  Front Aging Neurosci       Date:  2015-02-12       Impact factor: 5.750

10.  A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.

Authors:  Jantima Tanboon; Kanjana Rongsa; Manop Pithukpakorn; Kanokwan Boonyapisit; Chanin Limwongse; Tumtip Sangruchi
Journal:  Case Rep Neurol       Date:  2014-03-08
  10 in total

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