title: Dysferlinopathies.
abstract: 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.
authors.affiliation: Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France. andoni.urtizberea@hnd.aphp.fr
authors.forename: J Andoni
authors.initials: JA
authors.lastname: Urtizberea
authors.forename: Guillaume
authors.initials: G
authors.lastname: Bassez
authors.forename: France
authors.initials: F
authors.lastname: Leturcq
authors.forename: Karine
authors.initials: K
authors.lastname: Nguyen
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
authors.forename: Nicolas
authors.initials: N
authors.lastname: Levy
mesh_terms: D000818:Animals; D000073939:Dysferlin; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010641:Phenotype
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins