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An Intronic GBF1 Variant (c.2015-19C>G) is Associated with Charcot-Marie-Tooth Disease Type 2GG by Disrupting mRNA Splicing and a comprehensive review of the literature.

2025-12-22

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<title>Abstract</title> <p> Background Charcot-Marie-Tooth disease type 2GG (CMT2GG) is an autosomal dominant axonal peripheral neuropathy caused by heterozygous mutations in the <italic>GBF1</italic> gene, primarily characterized by slowly progressive distal muscle weakness. Pathogenic variants of <italic>GBF1</italic> associated with this disorder have been shown to be mainly located in exonic regions. Th...

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Literature Corpus work: 7effee23-12ff-5604-ac8c-5df678176fc2
DOI: 10.21203/rs.3.rs-8304862/v1

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An Intronic GBF1 Variant (c.2015-19C>G) is Associated with Charcot-Marie-Tooth Disease Type 2GG by Disrupting mRNA Splicing and a comprehensive review of the literature.DOI 10.21203/rs.3.rs-8304862/v1Read

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An Intronic GBF1 Variant (c.2015-19C&gt;G) is Associated with Charcot-Marie-Tooth Disease Type 2GG by Disrupting mRNA Splicing and a comprehensive review of the literature.

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Related research

An Intronic GBF1 Variant (c.2015-19C>G) is Associated with Charcot-Marie-Tooth Disease Type 2GG by Disrupting mRNA Splicing and a comprehensive review of the literature.