Charcot-Marie-Tooth Disease with A Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects

Ichiro Nozaki; Akihiro Hashiguchi; Hiroshi Takashima; Yoko Yamashita; Tomomi Higashide; Kazuo Iwasa; Kenjiro Ono

doi:10.2169/internalmedicine.1403-22

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Charcot-Marie-Tooth Disease with A Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects

Ichiro Nozaki, Akihiro Hashiguchi, Hiroshi Takashima, Yoko Yamashita, Tomomi Higashide, Kazuo Iwasa, Kenjiro Ono

著者情報

キーワード: X-linked Charcot-Marie-Tooth disease type 1, Gap Junction Protein Beta 1 (GJB1), connexin 32, gap junction channel

ジャーナルオープンアクセス早期公開

論文ID: 1403-22

DOI https://doi.org/10.2169/internalmedicine.1403-22

この記事には本公開記事があります。

The final version of this article is now available: Vol. 62 (2023), No. 20 pp. 3033-3036

詳細

抄録

Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood, and visual field defects in both eyes at 40 years old. A segregation analysis revealed a novel variant, c.173 C>A (p. P58H), in the GJB1 gene. Patients with variants at codon 58 in GJB1 showed clinically varied phenotypes, ranging from demyelinating neuropathy to cerebellar ataxia. This patient may represent one of the various clinical phenotypes of GJB1 variants.

責任著者(Corresponding author)

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