Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

Marcy C. Speer, Jeffery M. Vance, Janet M. Grubber, Felicia Lennon Graham, Jeffrey M. Stajich, Kristi D. Viles, Allison Rogala, Robert McMichael, Jerry Chutkow, Claire Goldsmith, Richard W. Tim, Margaret A. Pericak-Vance

Research output: Contribution to journalArticle

68 Scopus citations

Abstract

We report the identification of a new locus for autosomal dominant limb-girdle muscular dystrophy (LGMD1) on 7q. Two of five families (1047 and 1701) demonstrate evidence in favor of linkage to this region. The maximum two-point LOD score for family 1047 was 3.76 for D7S427, and that for family 1701 was 2.63 for D7S3058. Flanking markers place the LGMD1 locus between D7S2423 and D7S427, with multipoint analysis slightly favoring the 9-cM interval spanned by D7S2546 and D7S2423. Three of five families appear to be unlinked to this new locus on chromosome 7, thus establishing further heterogeneity within the LGMD1 diagnostic classification.

Original languageEnglish (US)
Pages (from-to)556-562
Number of pages7
JournalAmerican journal of human genetics
Volume64
Issue number2
DOIs
StatePublished - Jan 1 1999

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Speer, M. C., Vance, J. M., Grubber, J. M., Graham, F. L., Stajich, J. M., Viles, K. D., Rogala, A., McMichael, R., Chutkow, J., Goldsmith, C., Tim, R. W., & Pericak-Vance, M. A. (1999). Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. American journal of human genetics, 64(2), 556-562. https://doi.org/10.1086/302252