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

doi:10.1086/302252

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article

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 language	English (US)
Pages (from-to)	556-562
Number of pages	7
Journal	American journal of human genetics
Volume	64
Issue number	2
DOIs	https://doi.org/10.1086/302252
State	Published - 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

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. / Speer, Marcy C.; Vance, Jeffery M.; Grubber, Janet M.; Graham, Felicia Lennon; Stajich, Jeffrey M.; Viles, Kristi D.; Rogala, Allison; McMichael, Robert; Chutkow, Jerry; Goldsmith, Claire; Tim, Richard W.; Pericak-Vance, Margaret A.

In: American journal of human genetics, Vol. 64, No. 2, 01.01.1999, p. 556-562.

Research output: Contribution to journal › Article

Speer, Marcy C. ; Vance, Jeffery M. ; Grubber, Janet M. ; Graham, Felicia Lennon ; Stajich, Jeffrey M. ; Viles, Kristi D. ; Rogala, Allison ; McMichael, Robert ; Chutkow, Jerry ; Goldsmith, Claire ; Tim, Richard W. ; Pericak-Vance, Margaret A. / Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. In: American journal of human genetics. 1999 ; Vol. 64, No. 2. pp. 556-562.

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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.",

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