A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy

Abstract Background Hereditary motor and sensory neuropathy, also referred to as Charcot–Marie–Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. This duplication causes CMT type 1A (CMT1A). CMT1A rarely occurs in combination with other hered...

Cijeli opis

Bibliografski detalji
Glavni autori: Nozomu Matsuda, Koushi Ootsuki, Shunsuke Kobayashi, Ayaka Nemoto, Hitoshi Kubo, Shin-ichi Usami, Kazuaki Kanani
Format: Članak
Jezik:English
Izdano: BMC 2021-06-01
Serija:BMC Neurology
Teme:
Charcot–Marie–tooth disease
Waardenburg syndrome
PMP22
SOX10
Hypertrophic neuropathy
Whole-body MRI
Online pristup:https://doi.org/10.1186/s12883-021-02256-y

Internet

https://doi.org/10.1186/s12883-021-02256-y

Slični predmeti