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A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.

Genes - 29 Nov 2024

Ciampana Valentina, Corrado Lucia, Magistrelli Luca, Contaldi Elena, Comi Cristoforo, D'Alfonso Sandra, Vecchio Domizia

Abstract excerpt

BACKGROUND/OBJECTIVES: Axonal Charcot-Marie-Tooth disease type 2 (CMT2) accounts for 24% of Hereditary Motor/Sensory Peripheral Neuropathies. CMT2 type GG, due to four distinct heterozygous mutations in the Golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1) gene (OMIM 606483), was described in seven cases from four unrelated families with autosomal dominant inheritance. It is characterized by...

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PMID: 39766823
DOI: 10.3390/genes15121556

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