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The limb-girdle muscular dystrophies--diagnostic strategies

Lookup NU author(s): Emerita Professor Katherine Bushby, Dr Fiona Norwood, Professor Volker StraubORCiD

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Abstract

The limb-girdle muscular dystrophies are a group of disorders where our understanding of their underlying molecular basis has made huge strides over the past years, revealing great heterogeneity at the clinical and molecular level. The availability of direct protein and/ or gene based approaches to diagnosis means that these disorders can now be precisely defined, and such definition of a precise diagnosis is increasingly allowing directed management for these diseases by the ability to predict specific complications such as those of the cardiac or respiratory systems. An algorithm combining clinical, biochemical and molecular testing is described which will aid precision of diagnosis and direct specific testing towards the cases most likely to benefit. This brings advantages for the patients of today in recognising the specific risks of their disorders, and in the future will be the starting point for specific gene and protein based therapies.

Publication metadata

Author(s): Bushby K, Norwood F, Straub V

Publication type: Review

Publication status: Published

Journal: Biochimica et Biophysica Acta

Year: 2007

Volume: 1772

Issue: 2

Pages: 238-242

ISSN (print): 0006-3002

URL: http://dx.doi.org/10.1016/j.bbadis.2006.09.009

DOI: 10.1016/j.bbadis.2006.09.009

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