科研之友
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摘要
HNPP is an autosomal-dominant inherited disease clinically characterized by painless, episodic, recurrent peripheral palsy often preceded by minor trauma or toxic damage. It generally develops during adolescence and rarely is reported in childhood. We observed two children with this disease. In one of the cases, also the child's mother is suffering from HNPP Clinical and genetic characterics of our three patients are summarized in this article.
- 出版日期2008-11-30
