Aberrant Splicing in <i>GJB1</i> and the Relevance of 5′ UTR in CMTX1 Pathogenesis

Aberrant Splicing in <i>GJB1</i> and the Relevance of 5′ UTR in CMTX1 Pathogenesis

The second most common form of Charcot-Marie-Tooth disease (CMT) follows an X-linked dominant inheritance pattern (CMTX1), referring to mutations in the gap junction protein beta 1 gene (<i>GJB1</i>) that affect connexin 32 protein (Cx32) and its ability to form gap junctions in the myel...

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Bibliographic Details
Main Authors: Federica Boso, Federica Taioli, Ilaria Cabrini, Tiziana Cavallaro, Gian Maria Fabrizi
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Brain Sciences
Subjects:
Charcot-Marie-Tooth
CMT
X-linked Charcot-Marie-Tooth (CMTX1)
Connexin 32
<i>GJB1</i>
5′ UTR
Online Access:https://www.mdpi.com/2076-3425/11/1/24

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