Mapping of autosomal dominant progressive myopathy of a limb-girdle distribution and bone fragility to chromosome 9p21-22: Identification of a novel locus for a musculoskeletal syndrome

Watts, Giles D., Mehta, Sarju G., Zhao, Chengfeng, Ramdeen, Sheena, Hamilton, Sara Jane, Novack, Deborah V., Mumm, Steven, Whyte, Michael P., McGillivray, Barbara and Kimonis, Virginia E. (2005) Mapping of autosomal dominant progressive myopathy of a limb-girdle distribution and bone fragility to chromosome 9p21-22: Identification of a novel locus for a musculoskeletal syndrome. Human Genetics, 118 (3-4). pp. 508-514. ISSN 1432-1203

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Abstract

Progressive myopathy of a limb-girdle distribution and bone fragility is a rare autosomal dominant disorder of unknown etiology. Affected individuals, within this family, present with various combinations of progressive muscle weakness, easy fracturing, and poor healing of long bones. Additional features include premature graying with thin hair, thin skin, hernias, and clotting disorders. Electromyograms show myopathic changes and biopsies reveal non-specific myopathic changes. Skeletal radiographs demonstrate coarse trabeculation, patchy sclerosis, cortical thickening, and narrowing of medullary cavities. We report genetic mapping of this disorder to chromosome 9p21-p22 in a multigenerational family. A genome-wide scan for the disease locus obtained a maximal LOD score of 3.74 for marker GATA87E02 N (D9S1121). Haplotype analysis localized the disease gene within a 15 Mb interval flanked by markers AGAT142P and GATA5E06P. This region also localizes diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH). Identification of the disease gene will be necessary to understand the pathogenesis of this complex disorder.

Item Type:	Article
Faculty \ School:	Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups:	Faculty of Medicine and Health Sciences > Research Groups > Medicine (former - to 2013) Faculty of Medicine and Health Sciences > Research Groups > Musculoskeletal Medicine
Depositing User:	EPrints Services
Date Deposited:	25 Nov 2010 11:13
Last Modified:	17 Jan 2024 01:22
URI:	https://ueaeprints.uea.ac.uk/id/eprint/15319
DOI:	10.1007/s00439-005-0075-z

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