Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene
β Scribed by Tomimitsu, H.; Ishikawa, K.; Shimizu, J.; Ohkoshi, N.; Kanazawa, I.; Mizusawa, H.
- Book ID
- 111953747
- Publisher
- Lippincott Williams and Wilkins
- Year
- 2002
- Tongue
- English
- Weight
- 283 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0028-3878
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## Abstract We report two brothers from a Japanese family with a lateβonset 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 gen
## Abstract A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDPβ__N__βacetylglucosamine 2β