A cohort study ofMFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients-Reference-Cited by-同舟云学术

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A cohort study ofMFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients

Published:2014-06-18 Issue:6 Volume:87 Page:594-598
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Choi B.-O.¹,Nakhro K.²,Park H.J.²,Hyun Y.S.²,Lee J.H.²,Kanwal S.³,Jung S.-C.⁴,Chung K.W.²

Affiliation:

1. Department of Neurology, Samsung Medical Center; Sungkyunkwan University School of Medicine; Seoul South Korea

2. Department of Biological Science; Kongju National University; Gongju South Korea

3. Department of Biosciences; COMSATS Institute of Information Technology; Sahiwa Pakistan

4. Department of Biochemistry, Ewha Womans University School of Medicine, Mokdong Hospital; Seoul 158-710 South Korea

Funder

Korean Health Technology R&D Project, Ministry of Health and Welfare

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Update on Charcot-Marie-Tooth disease;Patzkó;Curr Neurol Neurosci Rep,2011

2. Clinical implications of genetic advances in Charcot-Marie-Tooth disease;Rossor;Nat Rev Neurol,2013

3. A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes;Kleopa;Neurogenetics,2004

4. Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families;Mazzeo;Acta Neurol Scand,2008

5. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies;Szigeti;Neuromolecular Med,2006

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2. A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth type 2A;2024-03-12

3. Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype;Neurology Genetics;2024-02

4. An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review;Gene;2023-10

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