Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy
Open Access
- 1 May 2005
- journal article
- case report
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 76 (5), 752-755
- https://doi.org/10.1136/jnnp.2004.048876
Abstract
Background: UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations have been found in patients with distal myopathy with rimmed vacuoles (DMRV). It is not clear how the same GNE gene mutations can result in different phenotypes in the same family with DMRV. Methods: The clinical, neurophysiological, histopathological, and genetic characteristics of two patients with DMRV from a Chinese family from Taiwan were investigated. Results: Two novel compound heterozygous mutations in different domains of the protein, Ile241Ser in the epimerase and Trp513stop in the kinase domain, were detected in both patients. However, the two patients demonstrated different patterns of disease progression: one had slow disease progression with a typical feature of DMRV (that is, weakness beginning in the distal leg muscles, typically anterior tibialis, with the quadriceps remaining relatively unaffected), and the other had rapid disease progression with an atypical presentation of DMRV. Conclusions: The results of the present study indicate that GNE gene mutations and probably modifier gene(s) or additional factors may result in different phenotypes of DMRV.Keywords
This publication has 9 references indexed in Scilit:
- Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed VacuolesJournal of Biological Chemistry, 2004
- Mutations spectrum ofGNE in hereditary inclusion body myopathy sparing the quadricepsHuman Mutation, 2002
- The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathyNature Genetics, 2001
- Biosynthesis of N-Acetylneuraminic Acid in Cells Lacking UDP-N-Acetylglucosamine 2-Epimerase/ N-Acetylmannosamine KinaseBiological Chemistry, 2001
- A Bifunctional Enzyme Catalyzes the First Two Steps inN-Acetylneuraminic Acid Biosynthesis of Rat LiverJournal of Biological Chemistry, 1997
- Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1Human Molecular Genetics, 1996
- Phenotypic heterogeneity in familial inclusion body myopathyMuscle & Nerve, 1995
- Autosomal recessive distal muscular dystrophy: A comparative study with distal myopathy with rimmed vacoule formationAnnals of Neurology, 1985
- Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formationJournal of the Neurological Sciences, 1981