Dysferlinopathies.
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.
Urtizberea
J Andoni
JA
Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France. andoni.urtizberea@hnd.aphp.fr
Bassez
Guillaume
G
Leturcq
France
F
Nguyen
Karine
K
Krahn
Martin
M
Levy
Nicolas
N
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
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins