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

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 ne...

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Detalles Bibliográficos
Autores principales: Matsuda, Nozomu, Ootsuki, Koushi, Kobayashi, Shunsuke, Nemoto, Ayaka, Kubo, Hitoshi, Usami, Shin-ichi, Kanani, Kazuaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228911/
https://www.ncbi.nlm.nih.gov/pubmed/34171997
http://dx.doi.org/10.1186/s12883-021-02256-y

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