Regular ArticleGenetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p
References (0)
Cited by (62)
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle
2013, International Journal of Biochemistry and Cell BiologyCitation Excerpt :Dysferlinopathies, also called dysferlin myopathies, are a heterogenous group of progressive muscular dystrophies characterized by mutations in the DYSF gene (Bashir et al., 1998; Liu et al., 1998). These mutations produce reduced or null expression of the dysferlin protein and can cause a variety of phenotypes (Illa et al., 2007, 2001; Nguyen et al., 2007; Paradas et al., 2009; Passos-Bueno et al., 1995), such as limb girdle muscular dystrophy type 2B (LGMD2B) (Bashir et al., 1996) or Miyoshi myopathy (MM) (Miyoshi et al., 1986). Dysferlin myopathies present with muscle weakness and high levels of creatinin kinase in serum, and the muscle biopsy shows dystrophic features and inflammatory infiltrates.
Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene
2001, Journal of the Neurological SciencesA new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy
2001, Neuromuscular DisordersA diagnostic fluorescent marker kit for six limb girdle muscular dystrophies
1999, Neuromuscular DisordersProteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes
2020, BMC Musculoskeletal DisordersSarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options
2018, Russian Journal of Genetics
Copyright © 1996 Academic Press. All rights reserved.