Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35

K. D. Mathews, K. A. Mills, E. P. Bosch, V. V. Ionasescu, K. R. Wiles, K. H. Buetow, J. C. Murray

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Facioscapulohumeral muscular dystrophy (FSHD) has recently been localized to 4q35. We have studied four families with FSHD. Linkage to the 4q35 probes D4S163, D4S139, and D4S171 was confirmed. We found no recombinants helpful in detailed localization of the FSHD gene. Two of our families include males with a rapidly progressive muscle disease that had been diagnosed, on the basis of clinical features, as Duchenne muscular dystrophy. One of these males is available for linkage study and shares the haplotype of his FSHD- affected aunt and cousin.

Original languageEnglish (US)
Pages (from-to)428-431
Number of pages4
JournalAmerican journal of human genetics
Issue number2
StatePublished - 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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