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Year : 2008  |  Volume : 56  |  Issue : 3  |  Page : 289--297

Dysferlinopathies


1 Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France
2 Assistance Publique Hopitaux de Paris, CHU Henri-Mondor, Department of Histology, 94000 CRETEIL, France
3 Department of Genetic Biochemistry, CHU Cochin, 75014 PARIS, France
4 Department of Genetics, CHU La Timone, 13000 MARSEILLE, France

Correspondence Address:
J Andoni Urtizberea
Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye
France
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.43447

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Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). A growing number of clinical variants have recently been described with a much wider range of symptoms and onset. Although rare, dysferlinopathies can account for up to 30% of progressive recessive muscular dystrophies in certain geographical areas, notably in the Middle East and the Indian subcontinent. Dysferlin is a large protein involved in membrane repair and vesicle trafficking and interacts probably with important immunological pathways. New insights in its pathophysiology may result in innovative therapies in the near future.






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Online since 20th March '04
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