title: Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation.
abstract: Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In this family, disease expression becomes more severe and progressive in successive generations, suggesting genetic anticipation. Accordingly, we have investigated the thirteen known CAG/CTG repeat loci on chromosome 12 that could be tested by using the polymerase chain reaction as candidate genetic mutations in SPSMA. None of these loci is expanded.
authors.affiliation: Department of Neurology, Northwestern University Medical School, Chicago, IL 60611-3008, USA.
authors.forename: K
authors.initials: K
authors.lastname: Isozumi
authors.forename: R
authors.initials: R
authors.lastname: DeLong
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
authors.forename: T
authors.initials: T
authors.lastname: Siddique
mesh_terms: D017668:Age of Onset; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018911:Trinucleotide Repeats