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Immunohistochemical study of clathrin in distal myopathy with rimmed vacuoles

✍ 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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## 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 UDP‐__N__‐acetylglucosamine 2‐

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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