Ontology highlight
ABSTRACT:
SUBMITTER: Kimonis VE
PROVIDER: S-EPMC6173187 | biostudies-literature | 2000 Jul-Aug
REPOSITORIES: biostudies-literature
Kimonis V E VE Kovach M J MJ Waggoner B B Leal S S Salam A A Rimer L L Davis K K Khardori R R Gelber D D
Genetics in medicine : official journal of the American College of Medical Genetics 20000701 4
<h4>Purpose</h4>To characterize the clinical features and perform linkage analysis of candidate loci in a large Illinois family with autosomal dominant limb-girdle muscular dystrophy (LGMD) and Paget disease of bone (PDB).<h4>Methods</h4>The family includes 11 affected individuals (8 M, 3 F). Clinical, biochemical and radiologic evaluations were performed to delineate clinical features of the disorder. Linkage analysis with polymorphic markers was performed for previously identified LGMD, PDB an ...[more]