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Article

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

BMC neurology - 25 Jun 2021

Matsuda Nozomu, Ootsuki Koushi, Kobayashi Shunsuke, Nemoto Ayaka, Kubo Hitoshi, Usami Shin-Ichi, Kanani Kazuaki

Abstract excerpt

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 hereditary neuromuscular disorders. However, such rare genetic coincidences produce a severe phenotype and have been reported in...

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Identifiers

PMID: 34171997
DOI: 10.1186/s12883-021-02256-y
PMCID: PMC8228911

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