伴有锥体束征的夏科-马里-图斯病在遗传上具有异质性：存在和不存在MFN2突变的家系。 - Suppr

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超能文献

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

作者信息

Zhu D, Kennerson M L, Walizada G, Züchner S, Vance J M, Nicholson G A

机构信息

ANZAC Research Institute, University of Sydney, Concord Hospital, NSW, Australia.

出版信息

Neurology. 2005 Aug 9;65(3):496-7. doi: 10.1212/01.wnl.0000171345.62270.29.

DOI:10.1212/01.wnl.0000171345.62270.29

PMID:16087932

Abstract

摘要

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Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

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Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

作者信息

Zhu D, Kennerson M L, Walizada G, Züchner S, Vance J M, Nicholson G A

机构信息

ANZAC Research Institute, University of Sydney, Concord Hospital, NSW, Australia.

出版信息

Neurology. 2005 Aug 9;65(3):496-7. doi: 10.1212/01.wnl.0000171345.62270.29.

DOI:10.1212/01.wnl.0000171345.62270.29

PMID:16087932

Abstract

摘要

相似文献

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

Neurology. 2005 Aug 9;65(3):496-7. doi: 10.1212/01.wnl.0000171345.62270.29.

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.

Neurology. 2005 Jul 26;65(2):197-204. doi: 10.1212/01.wnl.0000168898.76071.70.

Phenotype of Charcot-Marie-Tooth disease Type 2.

Neurology. 2007 May 15;68(20):1658-67. doi: 10.1212/01.wnl.0000263479.97552.94.

A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.

Clin Genet. 2015 Jun;87(6):594-8. doi: 10.1111/cge.12432. Epub 2014 Jun 18.

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.

J Neurol. 2011 Jul;258(7):1234-9. doi: 10.1007/s00415-011-5910-7. Epub 2011 Jan 22.

A new gene for the Charcot-Marie-Tooth disorder.

Isr Med Assoc J. 2004 Jun;6(6):376-7.

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1286-7. doi: 10.1136/jnnp.2007.115774.

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Acta Neurol Scand Suppl. 2012(193):iv-22. doi: 10.1111/ane.12013.

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

BMC Med Genet. 2010 Mar 29;11:48. doi: 10.1186/1471-2350-11-48.

引用本文的文献

A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.

Sci Rep. 2025 Mar 22;15(1):9971. doi: 10.1038/s41598-025-93702-1.

Current Treatment Methods for Charcot-Marie-Tooth Diseases.

Biomolecules. 2024 Sep 9;14(9):1138. doi: 10.3390/biom14091138.

Investigating the prevalence of mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.

Brain Commun. 2024 Sep 23;6(5):fcae312. doi: 10.1093/braincomms/fcae312. eCollection 2024.

Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family.

Front Genet. 2023 Jul 20;14:1235887. doi: 10.3389/fgene.2023.1235887. eCollection 2023.

Uncovering the important role of mitochondrial dynamics in oogenesis: impact on fertility and metabolic disorder transmission.

Biophys Rev. 2021 Nov 23;13(6):967-981. doi: 10.1007/s12551-021-00891-w. eCollection 2021 Dec.

Intern Med. 2021 Dec 15;60(24):3969-3974. doi: 10.2169/internalmedicine.7463-21. Epub 2021 Jun 12.

When the Balance Tips: Dysregulation of Mitochondrial Dynamics as a Culprit in Disease.

Int J Mol Sci. 2021 Apr 28;22(9):4617. doi: 10.3390/ijms22094617.

Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.

Biology (Basel). 2021 Mar 26;10(4):268. doi: 10.3390/biology10040268.

Animal Models of CMT2A: State-of-art and Therapeutic Implications.

Mol Neurobiol. 2020 Dec;57(12):5121-5129. doi: 10.1007/s12035-020-02081-3. Epub 2020 Aug 27.

Disorders of mitochondrial dynamics in peripheral neuropathy: Clues from hereditary neuropathy and diabetes.

Int Rev Neurobiol. 2019;145:127-176. doi: 10.1016/bs.irn.2019.05.002. Epub 2019 Jun 6.