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Autosomal recessive inheritance of Charcot-Marie-Tooth disease associated with sensorineural deafness.

作者信息

Cornell J, Sellars S, Beighton P

出版信息

Clin Genet. 1984 Feb;25(2):163-5. doi: 10.1111/j.1399-0004.1984.tb00479.x.

DOI:10.1111/j.1399-0004.1984.tb00479.x
PMID:6705250
Abstract

Three siblings with a combination of sensorineural deafness and the Charcot-Marie-Tooth syndrome have been investigated in a consanguineous Indian kindred. This syndrome, which to the best of our knowledge has not previously been reported, is probably inherited as an autosomal recessive trait.

摘要

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2
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.PMP22基因中的一种独特点突变与夏科-马里-图思病和耳聋相关。
Am J Hum Genet. 1999 Jun;64(6):1580-93. doi: 10.1086/302420.