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

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 p...

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Autores principales: KOTRUCHOW, KATARZYNA, KABZIŃSKA, DAGMARA, HAUSMANOWA-PETRUSEWICZ, IRENA, KOCHAŃSKI, ANDRZEJ
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006276/
https://www.ncbi.nlm.nih.gov/pubmed/24803844
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author KOTRUCHOW, KATARZYNA
KABZIŃSKA, DAGMARA
HAUSMANOWA-PETRUSEWICZ, IRENA
KOCHAŃSKI, ANDRZEJ
author_facet KOTRUCHOW, KATARZYNA
KABZIŃSKA, DAGMARA
HAUSMANOWA-PETRUSEWICZ, IRENA
KOCHAŃSKI, ANDRZEJ
author_sort KOTRUCHOW, KATARZYNA
collection PubMed
description 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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spelling pubmed-40062762014-05-06 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 KOTRUCHOW, KATARZYNA KABZIŃSKA, DAGMARA HAUSMANOWA-PETRUSEWICZ, IRENA KOCHAŃSKI, ANDRZEJ Acta Myol Case Report 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. Pacini Editore SpA 2013-12 /pmc/articles/PMC4006276/ /pubmed/24803844 Text en The journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy, Naples, Italy http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License, which permits for noncommercial use, distribution, and reproduction in any digital medium, provided the original work is properly cited and is not altered in any way. For details, please refer to http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Case Report
KOTRUCHOW, KATARZYNA
KABZIŃSKA, DAGMARA
HAUSMANOWA-PETRUSEWICZ, IRENA
KOCHAŃSKI, ANDRZEJ
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort late-onset and mild form of charcot-marie-tooth disease type 2 caused by a novel splice-site mutation within the mitofusin-2 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006276/
https://www.ncbi.nlm.nih.gov/pubmed/24803844
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