title: Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
abstract: 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 D1S2830. The functional and positional candidate genes, Syndecan 3 (SDC3), and lysosomal-associated multispanning membrane protein 5 (LAPTM5) were excluded for pathogenic mutations.
authors: Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, Antwerp, Belgium.
authors: Albena
authors: A
authors: Jordanova
authors: Florian P
authors: FP
authors: Thomas
authors: Velina
authors: V
authors: Guergueltcheva
authors: Ivailo
authors: I
authors: Tournev
authors: Francisco A A
authors: FA
authors: Gondim
authors: Borjana
authors: B
authors: Ishpekova
authors: Els
authors: E
authors: De Vriendt
authors: An
authors: A
authors: Jacobs
authors: Ivan
authors: I
authors: Litvinenko
authors: Neviana
authors: N
authors: Ivanova
authors: Borjan
authors: B
authors: Buzhov
authors: Peter
authors: P
authors: De Jonghe
authors: Ivo
authors: I
authors: Kremensky
authors: Vincent
authors: V
authors: Timmerman
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D010375:Pedigree