| REVIEW ARTICLE |
|
| Year : 2008 | Volume
: 56
| Issue : 3 | Page : 289--297 |
Dysferlinopathies
J Andoni Urtizberea1, Guillaume Bassez2, France Leturcq3, Karine Nguyen4, Martin Krahn4, Nicolas Levy4
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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.43447
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.
[FULL TEXT] [PDF]*
|
