Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q

M. C. Speer, L. H. Yamaoka, J. H. Gilchrist, C. P. Gaskell, J. M. Stajich, J. M. Vance, A. Kazantsev, A. A. Lastra, C. S. Haynes, J. S. Beckmann, D. Cohen, J. L. Weber, A. D. Roses, M. A. Pericak-Vance

Research output: Contribution to journalArticle

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Abstract

Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families were linked to chromosome 15q. We report herein the results of our linkage studies in a previously reported large autosomal dominant family. The LGMD gene in this family was localized to chromosome 5q22.3-31.3 by using a series of CA(n) microsatellite repeat markers. Linkage to 15q was excluded. These findings confirm genetic heterogeneity in this clinically diverse syndrome.

Original languageEnglish (US)
Pages (from-to)1211-1217
Number of pages7
JournalAmerican journal of human genetics
Volume50
Issue number6
StatePublished - Jan 1 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Speer, M. C., Yamaoka, L. H., Gilchrist, J. H., Gaskell, C. P., Stajich, J. M., Vance, J. M., Kazantsev, A., Lastra, A. A., Haynes, C. S., Beckmann, J. S., Cohen, D., Weber, J. L., Roses, A. D., & Pericak-Vance, M. A. (1992). Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q. American journal of human genetics, 50(6), 1211-1217.