MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations

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 whol...

Descripción completa

Detalles Bibliográficos
Autores principales: Nan, Haitian, Hata, Takanori, Fukao, Toko, Fukao, Toshimichi, Chen, Wanjing, Kurita, Takafumi, Natori, Takahiro, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758439/
https://www.ncbi.nlm.nih.gov/pubmed/34121014
http://dx.doi.org/10.2169/internalmedicine.7463-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758439/
https://www.ncbi.nlm.nih.gov/pubmed/34121014
http://dx.doi.org/10.2169/internalmedicine.7463-21

Ejemplares similares