Evaluation of the dystrophin–glycoprotein complex, α-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers

McKerrell, 1987, Hereditary myopathy in Labrador retrievers: clinical variations, J Small Animal Pract, 28, 479, 10.1111/j.1748-5827.1987.tb01441.x Braund, 1985, Hereditary myopathy in Labrador retrievers, Calif Vet, 39, 18 McKerrell, 1984, Generalised muscle weakness in the Labrador retriever, Vet Record, 115, 276, 10.1136/vr.115.11.276 Kramer, 1976, A muscle disorder of Labrador retrievers characterized by deficiency of type II muscle fibres, Am J Vet Med Assoc, 169, 817 McKerrell, 1986, Hereditary myopathy in Labrador retrievers: a morphologic study, Vet Pathol, 23, 411, 10.1177/030098588602300410 Amann, 1988, Muscle hemodynamics in hereditary myopathy of Labrador retrievers, Am J Vet Res, 49, 1127 Sharp, 1989, The muscular dystrophies, Semin Vet Med Surg (Small Animal), 4, 133 Ervasti, 1990, Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle, Nature, 345, 315, 10.1038/345315a0 Yoshida, 1990, Glycoprotein complex anchoring dystrophin to sarcolemma, J Biochem, 108, 748, 10.1093/oxfordjournals.jbchem.a123276 Campbell, 1995, Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage, Cell, 80, 675, 10.1016/0092-8674(95)90344-5 Duggan, 1997, Mutations in the sarcoglycan genes in patients with myopathy, N Engl J Med, 336, 618, 10.1056/NEJM199702273360904 Moreira, 1997, The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11–12, Am J Hum Genet, 62, 151, 10.1086/513889 Weiler, 1998, A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31–q33: evidence for another limb-girdle muscular dystrophy locus, Am J Hum Genet, 63, 140, 10.1086/301925 Richard, 1995, A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb-girdle muscular dystrophy type 2A, Cell, 81, 27, 10.1016/0092-8674(95)90368-2 Bashir, 1994, A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p, Hum Mol Genet, 3, 455, 10.1093/hmg/3.3.455 Noguchi, 1995, Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy, Science, 270, 819, 10.1126/science.270.5237.819 Roberds, 1994, Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy, Cell, 78, 625, 10.1016/0092-8674(94)90527-4 Bönnemann, 1996, Genomic screening for β-sarcoglycan mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E), Hum Mol Genet, 5, 1953, 10.1093/hmg/5.12.1953 Lim, 1995, Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12, Nat Genet, 11, 257, 10.1038/ng1195-257 Nigro, 1996, The 5q autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene, Nat Genet, 14, 195, 10.1038/ng1096-195 Tomé, 1994, Congenital muscular dystrophy with merosin deficiency, C R Acad Sci (III), 317, 351 Helbling-Leclerc, 1995, Mutations of the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy, Nat Genet, 11, 216, 10.1038/ng1095-216 Xu, 1994, Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama 2) gene, Nat Genet, 8, 297, 10.1038/ng1194-297 Bashir, 1998, A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb girdle muscular dystrophy type 2B, Nat Genet, 20, 37, 10.1038/1689 Liu, 1998, Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy, Nat Genet, 20, 31, 10.1038/1682 Anderson, 1999, Dysferlin is a plasma membrane protein and is expressed early in human development, Hum Mol Genet, 8, 855, 10.1093/hmg/8.5.855 Metzinger, 1997, Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy, Hum Mol Genet, 6, 1185, 10.1093/hmg/6.7.1185 Bönnemann, 1995, β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex, Nat Genet, 11, 266, 10.1038/ng1195-266 Nigro, 1996, Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein, Hum Mol Genet, 5, 1179, 10.1093/hmg/5.8.1179 Blake, 1996, Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein, J Biol Chem, 271, 7802, 10.1074/jbc.271.13.7802 Froehner, 1987, A postsynaptic Mr 58,000 (58K) protein concentrated at acetlycholine receptor-rich sites in Torpedo electroplaques and skeletal muscle. J Cell Biol, 104, 1633 Peters, 1994, Beta 2-syntrophin: localization at the neuromuscular junction in skeletal muscle, NeuroReport, 5, 1577, 10.1097/00001756-199408150-00009 North, 1996, Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin positive congenital muscular dystrophy, Neuromusc Disord, 6, 229, 10.1016/0960-8966(96)00361-6 Eymard, 1997, Primary adhalinopathy (α-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy, Neurology, 48, 1227, 10.1212/WNL.48.5.1227 Anderson, 1998, Characterization of monoclonal antibodies to calpain 3 and protein expression in patients with limb-girdle muscular dystrophy type 2A, Am J Pathol, 153, 1169, 10.1016/S0002-9440(10)65661-1 Anderson, 1999, Multiplex Western blotting system for the analysis of muscular dystrophy proteins, Am J Pathol, 154, 1017, 10.1016/S0002-9440(10)65354-0 Bönnemann, 1996, Beyond dystrophin: current progress in the muscular dystrophies, Curr Opin Pediatr, 8, 569, 10.1097/00008480-199612000-00005 Mahjneh, 1996, Limb-girdle muscular dystrophy: a follow-up study of 79 patients, Acta Neurol Scand, 94, 177, 10.1111/j.1600-0404.1996.tb07050.x Allamand, 1997, Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2 chain, Hum Mol Genet, 6, 747, 10.1093/hmg/6.5.747 Kornegay, 1988, Muscular dystrophy in a litter of golden retriever dogs, Muscle Nerve, 11, 1056, 10.1002/mus.880111008 Hoffman, 1989, Dystrophin abnormalities in Duchenne/Becker muscular dystrophy, Neuron, 2, 1019, 10.1016/0896-6273(89)90226-2 Sharp, 1992, An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy, Genomics, 13, 115, 10.1016/0888-7543(92)90210-J Herrmann, 1996, Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to the muscle immunohistochemistry, Eur J Pediatr, 155, 968, 10.1007/BF02282889 Dubowitz, 1985, 289 Vainzof, 1996, The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies, Hum Mol Genet, 5, 1963, 10.1093/hmg/5.12.1963 Minetti, 1998, Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy, Nat Genet, 18, 365, 10.1038/ng0498-365 McNally, 1998, Caveolin-3 in muscular dystrophy, Hum Mol Genet, 7, 871, 10.1093/hmg/7.5.871