[Genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth type 2A2A due to a missense variant of MFN2 gene].

The c.314C>T (p.Thr105Met) missense variant of the MFN2 gene probably underlie the CMT2A2A in this pedigree. Above finding has enabled prenatal diagnosis and genetic counseling for its subsequent pregnancies.

Authors

Jingfang Zhai (ORCID: https://orcid.org/0000-0001-7109-3193)
Yu Han
Jie Liang (ORCID: https://orcid.org/0000-0002-2773-6427)
Jiebin Wu

Institutions

Xuzhou Medical College (CN)
Xuzhou Central Hospital (CN)

Publication Details

Journal: PubMed
Published: 2025-01-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20240905-00471
Primary Topic: Hereditary Neurological Disorders
Type: article

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article

[Genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth type 2A2A due to a missense variant of MFN2 gene].

Jingfang Zhai, Yu Han, Jie Liang, Jiebin Wu

Jan 10, 2025

PubMed

Hereditary Neurological Disorders

article

[Genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth type 2A2A due to a missense variant of MFN2 gene].

Jingfang Zhai, Yu Han, Jie Liang, Jiebin Wu

January 10, 2025article en

Abstract

PubMedVol. 42(1)

Xuzhou Medical College (CN), Xuzhou Central Hospital (CN)

Hereditary Neurological Disorders

DOI Source OpenAlex

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[Genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth type 2A2A due to a missense variant of MFN2 gene]. — Jingfang Zhai, Yu Han, et al. · PubMed (2025) | TGRS Research Map | TGRS