Associated Papers
The Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic Therapies.
Wu J et al.
Journal of Neurochemistry, 2025
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB et al.
Neurology, 2017
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Tomaselli PJ et al.
Neurology, 2017
28283593 (PubMed )
Supplement: supp_WNL.0000000000003819_Table_e-2.pdf
Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.
Tsai PC et al.
Journal of the Neurological Sciences, 2013
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
Murphy SM et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.
Kabzińska D et al.
Acta Biochimica Polonica, 2011
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