Article
[PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2011
Xing Jun-Wei, Liu Ya-Hong, Shamsi Bilal Haider, Liu Xiao-Hong, Tan Lu, Xu Man
Abstract excerpt
OBJECTIVE: To study the mutation of PMP22 gene of an early-onset family with Charcot-Marie-Tooth disease (CMT) and the genetic features of the disease. METHODS: Two patients with CMT, fifteen unaffected members in the family and 20 healthy controls were enrolled. STR-PCR and gene scanning were used to detect PMP22 duplication mutation. RESULTS: The mutations of PMP22 were found in the two patients and other five...
Topics
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Chromosomes, Human, Pair 17
- Female
- Humans
- Male
- Mutation
- Myelin Proteins