title: Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.
abstract: The distal hereditary motor neuropathy (distal HMN) or the spinal form of Charcot-Marie-Tooth (CMT) disease is an exclusively motor disorder of the peripheral nervous system. The disorder clinically resembles the hereditary motor and sensory neuropathies (HMSN) type I and type II or CMT type 1 and type 2. Distal HMN might also be related to the spinal muscular atrophies (SMA) since, in both disorders, the lower motor neurons are affected. Electrophysiological and neuropathological examinations of peripheral nerves show the absence of sensory involvement. We performed a genome search in an extended Belgian family with autosomal dominant distal HMN type II. Significant linkage was obtained with markers located at chromosome 12q24, and the gene for distal HMN II was assigned to the 13 cM interval between D12S86 and D12S340.
authors.affiliation: Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), University of Antwerp (UIA), Belgium.
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: S
authors.initials: S
authors.lastname: Simokovic
authors.forename: A
authors.initials: A
authors.lastname: Löfgren
authors.forename: J
authors.initials: J
authors.lastname: Beuten
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
mesh_terms: D000293:Adolescent; D000328:Adult; D001530:Belgium; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010741:Phospholipases A / Q000235:genetics
chemical_list: D010741:Phospholipases A