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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders of nerve root, plexus or peripheral nerves
Hereditary neuropathy
8C20 Hereditary motor and sensory neuropathy
H02649 Autosomal dominant slowed nerve conduction velocity
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
Title
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
Title
Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10).
