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Gaucher Disease Patient With Myoclonus Epilepsy and a Novel Mutation

✍ Scribed by Asako Tajima; Toya Ohashi; Shin-ichiro Hamano; Norimichi Higurashi; Hiroyuki Ida


Book ID
116825642
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
248 KB
Volume
42
Category
Article
ISSN
0887-8994

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Gaucher disease results from mutations in the glucocerebrosidase gene (GBA/GeneBank J03059) located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel m

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Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).