Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers.
作者信息
Fryns J P, Van den Berghe H
出版信息
Hum Genet. 1980;55(3):413-5. doi: 10.1007/BF00290228.
PMID:7203475
Abstract
A large kindred with sex-linked recessive inheritance of Charcot-Marie-Tooth disease is presented. Partial clinical manifestations without functional disability and decreased nerve conduction velocity was demonstrated in the female heterozygotes.
摘要
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