Ontology highlight
ABSTRACT:
SUBMITTER: Verhoeven K
PROVIDER: S-EPMC1180612 | biostudies-literature | 2003 Oct
REPOSITORIES: biostudies-literature
Verhoeven Kristien K De Jonghe Peter P Van de Putte Tom T Nelis Eva E Zwijsen An A Verpoorten Nathalie N De Vriendt Els E Jacobs An A Van Gerwen Veerle V Francis Annick A Ceuterick Chantal C Huylebroeck Danny D Timmerman Vincent V
American journal of human genetics 20030819 4
Slowed nerve-conduction velocities (NCVs) are a biological endophenotype in the majority of the hereditary motor and sensory neuropathies (HMSN). Here, we identified a family with autosomal dominant segregation of slowed NCVs without the clinical phenotype of HMSN. Peripheral-nerve biopsy showed predominantly thinly myelinated axons. We identified a locus at 8p23 and a Thr109Ile mutation in ARHGEF10, encoding a guanine-nucleotide exchange factor (GEF) for the Rho family of GTPase proteins (RhoGT ...[more]