Article
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
Journal of human genetics - 1 Jan 2005
Singh Shweta, Suzuki Toshimitsu, Uchiyama Akira, Kumada Satoko, Moriyama Nobuko, Hirose Shinichi, Takahashi Yukitoshi, Sugie Hideo, Mizoguchi Koichi, Inoue Yushi, Kimura Kazue, Sawaishi Yukio, Yamakawa Kazuhiro, Ganesh Subramaniam
Abstract excerpt
Lafora disease (LD) is a rare autosomal recessive genetic disorder characterized by epilepsy, myoclonus, and progressive neurological deterioration. LD is caused by mutations in the EMP2A gene encoding a protein phosphatase. A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin...
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