## 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
β¦ LIBER β¦
Immunohistochemical study of clathrin in distal myopathy with rimmed vacuoles
β Scribed by T. Kumamoto; Tomoko Abe; Shinichiro Nagao; Hidetsugu Ueyama; Tomiyasu Tsuda
- Publisher
- Springer-Verlag
- Year
- 1998
- Tongue
- English
- Weight
- 600 KB
- Volume
- 95
- Category
- Article
- ISSN
- 0001-6322
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Investigators have speculated that the degenerative process in distal myopathy with rimmed vacuoles (DMRV) mainly involves the lysosomal system. To investigate possible protein abnormalities related to intracellular lysosomal proteolytic pathways in DMRV-affected muscles, we performed immunohistoche