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Article

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

Internal medicine (Tokyo, Japan) - 15 Dec 2021

Aoki Sho, Nagashima Kazuaki, Shibata Makoto, Kasahara Hiroo, Fujita Yukio, Hashiguchi Akihiro, Takashima Hiroshi, Ikeda Yoshio

Abstract excerpt

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 deformities. We herein present sibling cases of CMT4H with a homozygous mutation in the FGD4 gene. Both patients exhibited...

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Identifiers

PMID: 34148957
DOI: 10.2169/internalmedicine.7247-21
PMCID: PMC8758460

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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