Autosomal dominant slowed nerve conduction velocity (SNCV) is a rare hereditary neuropathy characterized by thin myelination of peripheral nerves. Mutations in ARHGEF10 have been identified. ARHGEF10 encodes a Rho GEF that is implicated in neural morphogenesis.
Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, De Vriendt E, Jacobs A, Van Gerwen V, Francis A, Ceuterick C, Huylebroeck D, Timmerman V
タイトル
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.
Chaya T, Shibata S, Tokuhara Y, Yamaguchi W, Matsumoto H, Kawahara I, Kogo M, Ohoka Y, Inagaki S
タイトル
Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10).
