Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2-Reference-Cited by-同舟云学术

Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2

Published:2013-12-16 Issue:1 Volume:49 Page:145-146
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Bergamin Giorgia¹,Torre Chiara Dalla²,Cacciavillani Mario³,Lucchetta Marta²,Boaretto Francesca¹,Campagnolo Marta²,Mostacciuolo Maria Luisa¹,Briani Chiara²

Affiliation:

1. Department of Biology; University of Padova; Italy

2. Department of Neurosciences; Neurological, Psychiatric, Sensorial, Reconstructive and Rehabilitative Sciences; University of Padova; Italy

3. CEMES, Data Medica Group; EMG Unit; Padova Italy

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.23985/fullpdf

Reference10 articles.

1. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A;Züchner;Nat Genet,2004

2. Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo;Rojo;J Cell Sci,2002

3. Molecular mechanism of mitochondrial membrane fusion;Griffin;Biochim Biophys Acta,2006

4. Mitofusin 2 tethers endoplasmic reticulum to mitochondria;Brito;Nature,2008

5. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families;Braathen;BMC Med Genet,2010

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1. Clinical and genetic features of a cohort of patients with MFN2-related neuropathy;Scientific Reports;2022-04-13

2. Mitofusin 2: from functions to disease;Cell Death & Disease;2018-02-28

3. A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2;Italian Journal of Pediatrics;2016-03-08

4. MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives;Journal of the Neurological Sciences;2015-09

5. Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie–Tooth Disease;NeuroMolecular Medicine;2014-05-13