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

Kazuo Isozumi, Robert DeLong, Jocelyn Kaplan, Wu Yen Hung, Teepu Siddique*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)701-703
Number of pages3
JournalHuman Genetics
Volume99
Issue number6
DOIs
StatePublished - Jun 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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