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Muscle fibrillin deficiency associated with Marfan's syndrome myopathy
Author(s) -
Behan W. M. H.,
Longman C.,
Petty R. K. H.,
Boxer M.,
Foskett P.,
Harriman D. G. F.
Publication year - 2002
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1046/j.1365-2990.2002.39286_20.x
Subject(s) - fibrillin , myopathy , marfan syndrome , exon , pathology , medicine , connective tissue , endomysium , anatomy , biology , genetics , gene , disease , coeliac disease
Marfan's syndrome (MFS) is the commonest inherited disorder of connective tissue. It is defined by major features in the cardiovascular, skeletal and ocular systems, and minor features in the integument and lungs. Patients who fulfil the diagnostic criteria have a mutation in the fibrillin (FBN1) gene, which encodes a major glycoprotein in the microfibrillar system, including in perimysium and endomysium. Muscle involvement, although in the original description, has not been mentioned at all recently. Materials and methods: We studied a family with MFS in whom myopathy led to respiratory failure. Genetic analyses on venous blood and immunohistochemical studies of muscle biopsies were carried out. Results: Single stranded conformational polymorphism screening of all exons of the FBN1 gene revealed a C4621 T base change in exon 37. This was predicted to result in the production of a truncated form of FBN1. Immunohistochemical studies showed conspicuous abnormalities in endomysial and perimysial fibrillin. Conclusion: This is the first demonstration of fibrillin deficiency in muscle in MFS and its implications for biomechanical function are discussed.