Article
Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.
Experimental & molecular medicine - 29 Feb 2004
Kim Seung Min, Chung Ki Wha, Choi Byung Ok, Yoon Eui Soo, Choi Jung Young, Park Kee Duk, Sunwoo Il Nam
Abstract excerpt
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12. The present study aimed at evaluating the deletion of the 17p11.2-p12 region in Korean subjects with families exhibiting HNPP phenotype, and to determine the clinical, electrophysiological and...
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