title: Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families.
abstract: Chronic childhood-onset spinal muscular atrophy (SMA) is, after Duchenne muscular dystrophy, the most common neuromuscular disorder in childhood. Recent linkage analyses have mapped this disease to 5q12-5q14. We show that chronic SMA (Types II and III) is tightly linked to the marker locus D5S39 (Zmax = 5.47 at theta = 0.02) in eight French Canadian families. In contrast to previously published results, we do not observe close linkage between chronic SMA and D5S6 (Zmax = 0.34 at theta = 0.18) or D5S78 (Zmax = 0.25 at theta = 0.21). Last, we present a family that appears to be discordant for this localization but may represent the first example of an incompletely penetrant individual.
authors.affiliation: Génétique Médicale, Centre de Recherche, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
authors.forename: L R
authors.initials: LR
authors.lastname: Simard
authors.forename: M
authors.initials: M
authors.lastname: Vanasse
authors.forename: C
authors.initials: C
authors.lastname: Rochette
authors.forename: K
authors.initials: K
authors.lastname: Morgan
authors.forename: B
authors.initials: B
authors.lastname: Lemieux
authors.forename: S B
authors.initials: SB
authors.lastname: Melançon
authors.forename: D
authors.initials: D
authors.lastname: Labuda
mesh_terms: D002170:Canada; D002895:Chromosomes, Human, Pair 5; D002908:Chronic Disease; D005260:Female; D005602:France / Q000208:ethnology; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree
chemical_list: D005819:Genetic Markers