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  • Title: A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
    Author: Joo IS, Ki CS, Joo SY, Huh K, Kim JW.
    Journal: Neuromuscul Disord; 2004 May; 14(5):325-8. PubMed ID: 15099592.
    Abstract:
    Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.
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