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- Haitian Nan, Takanori Hata, Toko Fukao, Toshimichi Fukao, Wanjing Chen, Takafumi Kurita, Takahiro Natori, and Yoshihisa Takiyama.
- Department of Neurology, University of Yamanashi, Japan.
- Intern. Med. 2021 Dec 15; 60 (24): 3969-3974.
AbstractWe 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) mutation in MFN2, but no mutation in the causative genes associated with cataracts. This missense mutation in MFN2 co-segregated with CMT and the atypical ocular manifestations in this family. The findings of this study might help to expand the clinical phenotype of heterogeneous MFN2-related CMT.
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