Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening

Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. CMT4H is characterized by an early onset, slow progression, scoliosis, distal muscle atrophy, and foot deform...

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Detalles Bibliográficos
Autores principales: Aoki, Sho, Nagashima, Kazuaki, Shibata, Makoto, Kasahara, Hiroo, Fujita, Yukio, Hashiguchi, Akihiro, Takashima, Hiroshi, Ikeda, Yoshio
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/PMC8758460/
https://www.ncbi.nlm.nih.gov/pubmed/34148957
http://dx.doi.org/10.2169/internalmedicine.7247-21

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