Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of <i>GJB1</i> gene: case report of a female patient-Reference-Cited by-同舟云学术

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient

Published:2018 Issue:5 Volume:58 Page:302-307
ISSN:0009-918X
Container-title:Rinsho Shinkeigaku
language:en
Short-container-title:Rinsho Shinkeigaku

Author:

Takemaru Makoto¹,Shimoe Yutaka¹,Sato Kota¹²,Hashiguchi Akihiro³,Takashima Hiroshi³,Kuriyama Masaru¹

Affiliation:

1. Department of Neurology, Brain Attack Center, Ota Memorial Hospital

2. Present address: Department of Neurology, Okayama University Hospital

3. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medicine and Dental Sciences

Publisher

Societas Neurologica Japonica

Subject

Clinical Neurology

Link

https://www.jstage.jst.go.jp/article/clinicalneurol/58/5/58_cn-001138/_pdf

Reference19 articles.

1. 4) Yiu EM, Geevasinga N, Nicholson GA, et al. A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. Neurology 2011;76:461-466.

2. 5) Kennerson ML, Yiu EM, Chuang DT, et al. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum Mol Genet 2013;22:1404-1416.

3. 6) Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011;69:22-33.

4. 7) Siskind CE, Murphy SM, Ovens R, et al. Phenotype expression in women with CMT1X. J Peripher Nerv Syst 2011;16:102-107.

5. 8) Murphy SM, Ovens R, Polke J, et al. X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscul Disord 2012;22:617-621.

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