Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening
Author:
Affiliation:
1. Department of Neurology, Gunma University Graduate School of Medicine, Japan
2. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/60/24/60_7247-21/_pdf
Reference37 articles.
1. 1. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 8: 654-667, 2009.
2. 2. Stojkovic T. Hereditary neuropathies: an update. Rev Neurol (Paris) 172: 775-778, 2016.
3. 3. De Sandre-Giovannoli A, Delague V, Hamadouche T, et al. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. J Med Genet 42: 260-265, 2005.
4. 4. Delague V, Jacquier A, Hamadouche T, et al. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet 81: 1-16, 2007.
5. 5. Delague V. Charcot-Marie-Tooth Neuropathy Type 4H - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. In: GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., Eds. University of Washington, Seattle, Seattle (WA), 2013: 1993-2020.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient;Journal of Neuromuscular Diseases;2024-01-02
2. Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4;Veterinary Pathology;2022-03-17
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