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lüll Dysferlinopathies Urtizberea JA; Bassez G; Leturcq F; Nguyen K; Krahn M; Levy NNeurol India 2008[Jul]; 56 (3): 289-97Dysferlinopathies 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.|Animals[MESH]|Dysferlin[MESH]|Genotype[MESH]|Humans[MESH]|Membrane Proteins/*genetics[MESH]|Muscle Proteins/*genetics[MESH]|Muscle, Skeletal/metabolism/pathology[MESH]|Neuromuscular Diseases/diagnosis/epidemiology/*genetics/pathology/therapy[MESH]|Phenotype[MESH] |