Neurology · 2004 · 64 citations · 7 references
MedicineGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeuromuscular DisordersGenetic DisordersInclusion Body MyositisMuscle PathologyMuscular DystrophyHereditary Inclusion Body MyopathyMutationRimmed VacuolesSkeletal Muscle AnatomySkeletal Muscle PhysiologySkeletal MyopathySplice Variant AnalysisSplice Variant Interpretation
Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. Seven new mutations were identified, including M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy. In addition, a splice-variant characteristic of the skeletal muscle was found, whereas the difference of the expression level between GNE-mutated and -nonmutated patients was not apparent.
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Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
Ichizo Nishino, S. Noguchi, K. Murayama et al. · Neurology · 2002 · 243 citations
Distal myopathy with rimmed vacuoles: Novel mutations in the <i>GNE</i> gene
Hiroyuki Tomimitsu, Kinya Ishikawa, Junya Shimizu et al. · Neurology · 2002 · 71 citations