GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with CMTX1 with identified pathogenic variants – p.Val139Met and p.Arg215Trp. In both the families, neuro...

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Bibliographic Details
Main Authors: Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite
Format: Article
Language:English
Published: Karger Publishers 2021-06-01
Series:Case Reports in Neurology
Subjects:
gjb1
x-linked charcot-marie-tooth disease
charcot-marie-tooth disease
Online Access:https://www.karger.com/Article/FullText/515170

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https://www.karger.com/Article/FullText/515170

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