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

Research output: Contribution to journal › Article › peer-review

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 - 1999
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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, 1999, p. 556-562.

Research output: Contribution to journal › Article › peer-review

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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title = "Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7",

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.",

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

note = "Funding Information: The authors would like to thank the personnel from the Center for Human Genetics, for technical assistance. The authors would like to thank Roberta Parker, for expert secretarial assistance. In addition, the authors are grateful to the members of the families who continue to support these research efforts. The authors were supported by National Institutes of Health grant NS26630 and by a Muscular Dystrophy Association grant (both to M.A.P.-V. and M.C.S.). ",

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AU - Speer, Marcy C.

AU - Vance, Jeffery M.

AU - Grubber, Janet M.

AU - Graham, Felicia Lennon

AU - Stajich, Jeffrey M.

AU - Viles, Kristi D.

AU - Rogala, Allison

AU - McMichael, Robert

AU - Chutkow, Jerry

AU - Goldsmith, Claire

AU - Tim, Richard W.

AU - Pericak-Vance, Margaret A.

N1 - Funding Information: The authors would like to thank the personnel from the Center for Human Genetics, for technical assistance. The authors would like to thank Roberta Parker, for expert secretarial assistance. In addition, the authors are grateful to the members of the families who continue to support these research efforts. The authors were supported by National Institutes of Health grant NS26630 and by a Muscular Dystrophy Association grant (both to M.A.P.-V. and M.C.S.).

PY - 1999

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N2 - 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.

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

Abstract

ASJC Scopus subject areas

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