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Case Reports
. 2000 Jul-Aug;2(4):232-41.
doi: 10.1097/00125817-200007000-00006.

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

V E Kimonis  1 , M J Kovach, B Waggoner, S Leal, A Salam, L Rimer, K Davis, R Khardori, D Gelber
Affiliations
Case Reports

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

V E Kimonis et al. Genet Med. 2000 Jul-Aug.

Abstract

Purpose: 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).

Methods: 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 and cardiomyopathy loci.

Results: Onset of PDB is early, at a mean age of 35 y, with classic distribution involving the spine, pelvis, and skull. Muscle weakness and atrophy is progressive with mildly elevated to normal creatine phosphokinase levels. Muscle biopsy in the oldest male revealed vacuolated fibers, however, in others revealed nonspecific myopathy. Affected individuals die from progressive muscle weakness, and respiratory and cardiac failure in their 40s-60s. Linkage analysis excluded autosomal dominant and recessive LGMD, PDB, and cardiomyopathy loci.

Conclusion: Autosomal dominant LGMD associated with PDB is an unusual disorder. Linkage analysis indicates a unique locus in this family.

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Figures

Fig. 1
Fig. 1
Pedigree of family affected with autosomal domlnant LGMD and PDB. Circles denote females, squares denote males, slashed symbols denote deceased individuals.
Fig. 1
Fig. 1
Pedigree of family affected with autosomal domlnant LGMD and PDB. Circles denote females, squares denote males, slashed symbols denote deceased individuals.
Fig. 2
Fig. 2
High powered magnification (hematoxylin and eosin, ×400) of muscle from the right deltoid of case 9 showed variation in fiber size with frequent angular fibers. Many of the fibers contalned blue, rimmed vacuoles.
See this image and copyright information in PMC

References

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