Ontology highlight
ABSTRACT:
SUBMITTER: Jordanova A
PROVIDER: S-EPMC1180404 | biostudies-literature | 2003 Dec
REPOSITORIES: biostudies-literature
Jordanova Albena A Thomas Florian P FP Guergueltcheva Velina V Tournev Ivailo I Gondim Francisco A A FA Ishpekova Borjana B De Vriendt Els E Jacobs An A Litvinenko Ivan I Ivanova Neviana N Buzhov Borjan B De Jonghe Peter P Kremensky Ivo I Timmerman Vincent V
American journal of human genetics 20031106 6
Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy is a genetic and phenotypic variant of classical CMT, characterized by intermediate nerve conduction velocities and histological evidence of both axonal and demyelinating features. We report two unrelated families with intermediate CMT linked to a novel locus on chromosome 1p34-p35 (DI-CMTC). The combined haplotype analysis in both families localized the DI-CMTC gene within a 6.3-cM linkage interval flanked by markers D1S2787 and D1S2 ...[more]