A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease-Reference-Cited by-同舟云学术

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A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease

Published:2011-03 Issue:1 Volume:16 Page:65-70
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:

Author:

Murphy Sinéad M.,Polke James,Manji Hadi,Blake Julian,Reiniger Lilla,Sweeney Mary,Houlden Henry,Brandner Sebastian,Reilly Mary M.

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1529-8027.2011.00321.x/fullpdf

Reference27 articles.

1. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 promoter and a rare polymorphism in LITAF/SIMPLE.;Beauvais;Neuromusc Dis,2006

2. Connexin mutations in X-linked Charcot-Marie-Tooth disease.;Bergoffen;Science,1993

3. Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.;Bondurand;Hum Mol Genet,2001

4. A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.;Demirci;Am J Ophthalmol,2004

5. Mutation in the nerve-specific 5′ non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family.;Flagiello;Hum Mutat,1998

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4. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01

5. Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis;Brain Sciences;2020-12-27

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