title: Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree.
abstract: We describe a six generation family affected with the autosomal dominant form of distal hereditary motor neuropathy type II (distal HMN II). The distal HMN shows similarities with the hereditary motor and sensory neuropathies type I and II (HMSN I and HMSN II) or Charcot-Marie-Tooth disease type 1 and 2 (CMT 1 and CMT 2) and with some proximal HMN or spinal muscular atrophies (SMA). Gene loci have been assigned to chromosomes 1q, 17p, and 19q for CMT 1 and to chromosome 5q for recessive SMA. In this study we excluded all four regions for the presence of distal HMN II, indicating that this neuropathy is genetically different from CMT 1 and recessive SMA.
authors.affiliation: Department of Biochemistry, University of Antwerp, Belgium.
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: P
authors.initials: P
authors.lastname: Raeymaekers
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: L
authors.initials: L
authors.lastname: Muylle
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: D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D002888:Chromosomes, Human, Pair 19; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D009046:Motor Neurons / Q000473:pathology; D010375:Pedigree
chemical_list: D005819:Genetic Markers