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Article

INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Journal of the peripheral nervous system : JPNS - 1 Mar 2023

Park Jin Hee, Kwon Hye Mi, Nam Da Eun, Kim Hye Jin, Nam Soo Hyun, Kim Sang Beom, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Mutations in INF2 are associated with the complex symptoms of Charcot-Marie-Tooth disease (CMT) and focal segmental glomerulosclerosis (FSGS). To date, more than 100 and 30 genes have been reported to cause these disorders, respectively. This study aimed to identify INF2 mutations in Korean patients with CMT. This study was conducted with 743 Korean families with CMT who were negative for PMP22 duplication. In...

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PMID: 36637069
DOI: 10.1111/jns.12530

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