Article
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
Human molecular genetics - 15 Apr 2001
López-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos J A, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham K B, Ferrer I, Arbonés M L, Estivill X
Abstract excerpt
Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis. We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peripheral neuropathy and sensorineural hearing impairment. A wide range of disease severity for peripheral neuropathy, from asymptomatic cases to subjects with chronic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.