This report highlights the presence of fibrillin abnormalities in the muscle biopsies of Marfan's syndrome patients with myopathy and its potential association with respiratory failure.
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May signal respiratory failure risk in Marfan myopathy; hypothesis-generating for FBN1-related muscle involvement.
Abnormalities in fibrillin can be detected in muscle biopsies from patients with Marfan's syndrome who have myopathy. This pedigree, with a point mutation in FBN1, also draws attention to the potential for respiratory failure associated with myopathy.
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W. M. H. Behan (2003) studied this question.
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