Article
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.
American journal of medical genetics - 15 Mar 2002
Waggoner Brook, Kovach Margaret J, Winkelman Marc, Cai Dan, Khardori Romesh, Gelber David, Kimonis Virginia E
Abstract excerpt
The combination of autosomal dominant, early onset Paget disease of bone (PDB) and muscular dystrophy is an unusual disorder. We recently mapped the disorder in a large family from central Illinois with PDB and proximal limb-girdle type of muscular dystrophy (LGMD), and in 3 additional families with hereditary inclusion body myopathy (HIBM), Paget disease of bone and frontotemporal dementia, to a unique locus on...
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