Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease

Teepu Siddique, Helen Roper, Margaret A. Pericak-Vance, John Shaw, Katherine L. Warner, Wu Yen Hung, Kenneth L. Phillips, Peter Lunt, W. J.Kenneth Cumming, Allen D. Roses

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Facioscapulohumeral disease is probably a heterogeneous disorder. We have ascertained and sampled two multigeneration families with the neurogenic form of this disorder, considered to be a type of spinal muscular atrophy (FSHSMA). The two families have 36 affected members. Linkage studies with 10 expressed and seven DNA restriction fragment length polymorphism (RFLP) markers failed to show significant linkage (Zmax≥3-00). However, two areas of probable linkage were defined on chromosomes lp and 4q with the markers MNS (Z max=l-47 at Theta;max=0.10) and PGM1 (Zmax=0.94 at theta;max=0.001) respectively. We are using additional RFLPs from these and other areas of the human genome to screen these families for linkage to FSHSMA.

Original languageEnglish (US)
Pages (from-to)487-489
Number of pages3
JournalJournal of medical genetics
Issue number8
StatePublished - 1989
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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