Literature DB >> 6705250

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

J Cornell, S Sellars, P Beighton.   

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.

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Year:  1984        PMID: 6705250     DOI: 10.1111/j.1399-0004.1984.tb00479.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Authors:  M J Kovach; J P Lin; S Boyadjiev; K Campbell; L Mazzeo; K Herman; L A Rimer; W Frank; B Llewellyn; E W Jabs; D Gelber; V E Kimonis
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

2.  Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.

Authors:  Chi-Chun Ho; Shuk-Mui Tai; Edmond Chi-Nam Lee; Timothy Shin-Heng Mak; Timothy Kam-Tim Liu; Victor Wai-Lun Tang; Wing-Tat Poon
Journal:  Int J Mol Sci       Date:  2017-04-05       Impact factor: 5.923

  2 in total

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