Article
MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations.
Internal medicine (Tokyo, Japan) - 15 Dec 2021
Nan Haitian, Hata Takanori, Fukao Toko, Fukao Toshimichi, Chen Wanjing, Kurita Takafumi, Natori Takahiro, Takiyama Yoshihisa
Abstract excerpt
We herein describe a Charcot-Marie-Tooth disease (CMT) family with a MFN2 mutation with atypical ocular manifestations. The proband, his mother, his third daughter, and his deceased maternal grandfather all had symptoms of CMT and a visual impairment (either cataracts or severe astigmatism). On whole-exome sequencing for the proband having CMT and congenital cataracts, we identified a c.314C>T (p.Thr105Met)...
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