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

Citation
C. Speer, Marcy et al., Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q, American journal of human genetics , 50-II(6), 1992, pp. 1211-1217
ISSN journal
00029297
Volume
50-II
Issue
6
Year of publication
1992
Pages
1211 - 1217
Database
ACNP
SICI code
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.