ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2013
A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 8 citations in OpenAlex.
- Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.Neurology. Genetics · 2023Article
- Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.bioRxiv : the preprint server for biology · 2023Article
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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Abstract
Charcot-Marie-Tooth type 2A disease (CMT2A) caused by mutations in the Mitofusin 2 gene (Mfn2) has been shown to be an early-onset axonal neuropathy with severe clinical course in the majority of the patients. In this study we present a unique phenotype of CMT2A disease characterized by late-onset polyneuropathy with a very mild clinical course. This rare form of CMT2A disease is caused by a new splice-site (c.311+1G>T) mutation within the MFN2 gene. Due to disturbance of the MFN2 splicing process, this mutation generates a short transcript which encodes a very short fragment of MFN2 protein. The c.311+1G>T mutation within the MFN2 gene results in the late -onset CMT2 disease.
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24803844PMC4006276W219872756What OpenQuestion holds
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