title: Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
abstract: Distal hereditary motor neuropathies (distal HMNs) are characterized by degeneration of anterior horn cells of the spinal cord resulting in muscle weakness and atrophy. Distal HMN type II is genetically linked to chromosome 12q24.3 and located within a 13 cM region flanked by D12S86 and D12S340. We previously excluded 5 positional and functional candidate genes for distal HMN II. Here, we report the exclusion of 12 additional candidate genes localized within the distal HMN II region; the genes include musashi (Drosophila) homolog 1 (MSI1), protein inhibitor of neuronal nitric oxide synthase (PIN), peripherin (PRPH), tubulin alpha ubiquitous (K-ALPHA-1), tubulin alpha 3 (TUBA3), tubulin alpha 6 (TUBA6), splicing factor arginine/serine-rich 9 (SFRS9), U5 snRNP 100 kd (U5- 100K), putative chemokine receptor, GTP-binding protein (HM74), MondoA, cut (Drosophila)-like homeobox 2 (CUX2) and ADP-ribosylation factor 3 (ARF3).
authors.affiliation: Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp, Antwerpen, Belgium.
authors.forename: Joy
authors.initials: J
authors.lastname: Irobi
authors.forename: Eva
authors.initials: E
authors.lastname: Nelis
authors.forename: Kristien
authors.initials: K
authors.lastname: Verhoeven
authors.forename: Els
authors.initials: E
authors.lastname: De Vriendt
authors.forename: Ines
authors.initials: I
authors.lastname: Dierick
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: Vincent
authors.initials: V
authors.lastname: Timmerman
mesh_terms: D001483:Base Sequence / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation