Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies

Seminars in Pediatric Neurology - Tập 9 Số 2 - Trang 81-99 - 2002
Carsten G. Bönnemann1, Richard S. Finkel1
1Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pa, USA

Tóm tắt

Từ khóa


Tài liệu tham khảo

Bushby, 1995, The limb girdle muscular dystrophies—proposal for a new nomenclature, Neuromuscul Disord, 4, 337, 10.1016/0960-8966(95)00005-8

Hoffman, 1987, Dystrophin: The protein product of the Duchenne muscular dystrophy locus, Cell, 51, 919, 10.1016/0092-8674(87)90579-4

Campbell, 1989, Association of dystrophin and an integral membrane glycoprotein, Nature, 338, 259, 10.1038/338259a0

Yoshida, 1990, Glycoprotein complex anchoring dystrophin to sarcolemma, J Biochem (Tokyo), 108, 748, 10.1093/oxfordjournals.jbchem.a123276

Ervasti, 1991, Membrane organization of the dystrophin-glycoprotein complex, Cell, 66, 1121, 10.1016/0092-8674(91)90035-W

Yoshida, 1994, Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside, Eur J Biochem, 222, 1055, 10.1111/j.1432-1033.1994.tb18958.x

Koenig, 1988, The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein, Cell, 53, 219, 10.1016/0092-8674(88)90383-2

Rybakova, 1996, A new model for the interaction of dystrophin with F-actin, J Cell Biol, 135, 661, 10.1083/jcb.135.3.661

Sadoulet-Puccio, 1996, Dystrophin and its isoforms, Brain Pathol, 6, 25, 10.1111/j.1750-3639.1996.tb00780.x

Sadoulet-Puccio, 1997, Dystrobrevin and dystrophin: An interaction through coiled-coil motifs, Proc Natl Acad Sci U S A, 94, 12413, 10.1073/pnas.94.23.12413

Yoshida, 2000, Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy, Hum Mol Genet, 9, 1033, 10.1093/hmg/9.7.1033

Newey, 2001, Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle, J Biol Chem, 276, 6645, 10.1074/jbc.M008305200

Mizuno, 2001, Desmuslin, an intermediate filament protein that interacts with alpha-dystrobrevin and desmin, Proc Natl Acad Sci U S A, 98, 6156, 10.1073/pnas.111153298

Ahn, 1996, The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each binds to dystrophin and its relatives, J Biol Chem, 271, 2724, 10.1074/jbc.271.5.2724

Peters, 1997, Differential association of syntrophin pairs with the dystrophin complex, J Cell Biol, 138, 81, 10.1083/jcb.138.1.81

Brenman, 1996, Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alphal-syntrophin mediated by PDZ domains, Cell, 84, 757, 10.1016/S0092-8674(00)81053-3

Kameya, 1999, Alphal-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration, J Biol Chem, 274, 2193, 10.1074/jbc.274.4.2193

Grady, 1999, Role for alphadystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies, Nat Cell Biol, 1, 215, 10.1038/12034

Ibraghimov-Beskrovnaya, 1993, Human dystroglycan: Skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization, Hum Mol Genet, 2, 1651, 10.1093/hmg/2.10.1651

Suzuki, 1992, Glycoproteinbinding site of dystrophin is confined to the cysteine-rich domain and the first half the carboxy-terminal domain, FEBS Lett, 308, 154, 10.1016/0014-5793(92)81265-N

Jung, 1995, Identification and characterization of the dystrophin anchoring site on beta-dystroglycan, J Biol Chem, 270, 27305, 10.1074/jbc.270.45.27305

Ibraghimov-Beskrovnaya, 1992, Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix, Nature, 355, 696, 10.1038/355696a0

Durbeej, 1998, Dystroglycan in development and disease, Curr Opin Cell Biol, 10, 594, 10.1016/S0955-0674(98)80034-3

Ervasti, 1993, A role for the dystrophinglycoprotein complex as a transmembrane linker between laminin and actin, J Cell Biol, 122, 809, 10.1083/jcb.122.4.809

Montanaro, 1999, Alphadystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability, J Cell Biol, 145, 1325, 10.1083/jcb.145.6.1325

Helbling-Leclerc, 1995, Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy, Nat Genet, 11, 216, 10.1038/ng1095-216

Bowe, 2000, The small leucinerich repeat proteglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle, J Cell Biol, 148, 801, 10.1083/jcb.148.4.801

Williamson, 1997, Dystroglycan is essential for early embryonic development: Disruption of Reichert's membrane in Dag 1-null mice, Hum Mol Genet, 6, 831, 10.1093/hmg/6.6.831

Cote, 1999, Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses, Nat Genet, 23, 338, 10.1038/15519

Kobayashi, 1998, An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy, Nature, 394, 388, 10.1038/28256

Brockington, 2001, Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan, Am J Hum Genet, 69, 1198, 10.1086/324412

Brockington, 2001, Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDCIC, Hum Mol Genet, 10, 2851, 10.1093/hmg/10.25.2851

Yoshida, 2001, Muscular dystrophy and neuronal migration disorder daused by dutations in glycosyltransferase, POMGnT1, Dev Cell, 1, 717, 10.1016/S1534-5807(01)00070-3

Grewal, 2001, Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse, Nat Genet, 28, 151, 10.1038/88865

Mathews, 1995, Phenotypic and pathologic evaluation of the myd mouse: A candidate model for facioscapulohumeral dystrophy, J Neuropathol Exp Neurol, 54, 601, 10.1097/00005072-199507000-00014

Jaeken, 2001, Congenital disorders of glycosylation: The rapidly growing tip of the iceberg, Curr Opin Neurol, 14, 811, 10.1097/00019052-200112000-00021

Ozawa, 1998, From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophymal recessive limb-girdle muscular dystrophy in the Brazilian population, Muscle Nerve, 21, 421, 10.1002/(SICI)1097-4598(199804)21:4<421::AID-MUS1>3.0.CO;2-B

Bönnemann, 2000, Disorders of the sarcoglycan complex (sarcoglycanopathies), vol 18, 26

Hack, 2000, Sarcoglycans in muscular dystrophy, Microse Res Tech, 48, 167, 10.1002/(SICI)1097-0029(20000201/15)48:3/4<167::AID-JEMT5>3.0.CO;2-T

Liu, 1999, Sarcoglycan isoforms in skeletal muscle, J Biol Chem, 274, 38171, 10.1074/jbc.274.53.38171

Straub, 1999, Epsilon-Sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex, J Biol Chem, 274, 27989, 10.1074/jbc.274.39.27989

Barresi, 2000, Expression of gamma-sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex, J Biol Chem, 275, 38554, 10.1074/jbc.M007799200

Chan, 1998, Molecular organization of sarcoglycan complex in mouse myotubes in culture, J Cell Biol, 143, 2033, 10.1083/jcb.143.7.2033

Noguchi, 2000, Formation of sarcoglycan complex with differentiation in cultured myocytes, Eur J Biochem, 267, 640, 10.1046/j.1432-1327.2000.00998.x

Hagiwara, 2001, Biglycan is an extracellular scaffolding molecule of the dystrophin-associated protein complex, Neuromuscul Disord, 11, 650

Thompson, 2000, Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein, J Cell Biol, 148, 115, 10.1083/jcb.148.1.115

Crosbie, 1997, Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex, J Biol Chem, 272, 31221, 10.1074/jbc.272.50.31221

Crosbie, 1999, Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex, J Cell Biol, 145, 153, 10.1083/jcb.145.1.153

Lebakken, 2000, Sarcospan-deficient mice maintain normal muscle function, Mol Cell Biol, 20, 1669, 10.1128/MCB.20.5.1669-1677.2000

Maecker, 1997, The tetraspanin super-family: Molecular facilitators, FASEB J, 11, 428, 10.1096/fasebj.11.6.9194523

Duclos, 1998, Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice, J Cell Biol, 142, 1461, 10.1083/jcb.142.6.1461

Coral-Vazquez, 1999, Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy, Cell, 98, 465, 10.1016/S0092-8674(00)81975-3

Hack, 1999, Muscle degeneration without mechanical injury in sarcoglycan deficiency, Proc Natl Acad Sci U S A, 96, 10723, 10.1073/pnas.96.19.10723

Araishi, 1999, Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in β-sarcoglycan-deficient mice, Hum Mol Genet, 8, 1589, 10.1093/hmg/8.9.1589

Hack, 2000, Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex, J Cell Sci, 113, 2535, 10.1242/jcs.113.14.2535

Durbeej, 2000, Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limbgirdle muscular dystrophy type 2E, Mol Cell, 5, 141, 10.1016/S1097-2765(00)80410-4

Nigro, 1997, Identification of the Syrian hamster cardiomyopathy gene, Hum Mol Genet, 6, 601, 10.1093/hmg/6.4.601

Campbell, 1995, Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage, Cell, 80, 675, 10.1016/0092-8674(95)90344-5

Straub, 1992, Direct visualization of the dystrophin network on skeletal muscle fiber membrane, J Cell Biol, 119, 1183, 10.1083/jcb.119.5.1183

Yamada, 2001, Processing of beta-dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex, Hum Mol Genet, 10, 1563, 10.1093/hmg/10.15.1563

Rando, 2001, The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies, Muscle Nerve, 24, 1575, 10.1002/mus.1192

Petrof, 1993, Dystrophin protects the sarcolemma from stresses developed during muscle contraction, Proc Natl Acad Sci U S A, 90, 3710, 10.1073/pnas.90.8.3710

Cary, 1999, Integrin-mediated signal transduction pathways, Histol Histopathol, 14, 1001

Vachon, 1997, Integrins (alpha7beta1) in muscle function and survival: Disrupted expression in merosin-deficient congenital muscular dystrophy, J Clin Invest, 100, 1870, 10.1172/JCI119716

Hodges, 1997, Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies, J Cell Sci, 110, 2873, 10.1242/jcs.110.22.2873

Burkin, 2001, Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice, J Cell Biol, 152, 1207, 10.1083/jcb.152.6.1207

Mayer, 1997, Absence of integrin a7 causes a novel form of muscular dystrophy, Nat Genet, 17, 318, 10.1038/ng1197-318

Hayashi, 1998, Mutations in the integrin a7 gene cause congenital myopathy, Nat Genet, 19, 94, 10.1038/ng0598-94

Yoshida, 1998, Bidirectional signaling between sarcoglycans and the integrin adhesion system in cultured L6 myocytes, J Biol Chem, 273, 1583, 10.1074/jbc.273.3.1583

Okamoto, 1998, Caveolins, a family of scaffolding proteins for organizing “preassembled signaling complexes” at the plasma membrane, J Biol Chem, 273, 5419, 10.1074/jbc.273.10.5419

Razani, 2000, Caveolin proteins in signaling, oncogenic transformation and muscular dystrophy, J Cell Sci, 113, 2103, 10.1242/jcs.113.12.2103

McNally, 1998, Caveolin-3 in muscular dystrophy, Hum Mol Genet, 7, 871, 10.1093/hmg/7.5.871

Sotgia, 2000, Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan: Identification of a central WW-like domain within caveolin family members, J Biol Chem, 275, 38048, 10.1074/jbc.M005321200

Crosbie, 1998, Caveolin-3 is not an integral component of the dystrophin glycoprotein complex, FEBS Lett, 427, 279, 10.1016/S0014-5793(98)00442-6

Venema, 1997, Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle: Identification of a novel caveolin scaffolding/inhibitory domain, J Biol Chem, 272, 28187, 10.1074/jbc.272.45.28187

Matsuda, 2001, The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle, Neuromuscul Disord, 11, 626

Minetti, 1998, Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy, Nat Genet, 18, 365, 10.1038/ng0498-365

Galbiati, 2000, Transgenic over-expression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype, Proc Natl Acad Sci U S A, 97, 9689, 10.1073/pnas.160249097

Sunada, 2001, Trasngenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity, Hum Mol Genet, 10, 173, 10.1093/hmg/10.3.173

Hagiwara, 2000, Caveolin-3 deficiency causes muscle degeneration in mice, Hum Mol Genet, 9, 3047, 10.1093/hmg/9.20.3047

Galbiati, 2001, Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities, J Biol Chem, 276, 21425, 10.1074/jbc.M100828200

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 musuclar 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

Matsuda, 1999, Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy, Neurology, 53, 1119, 10.1212/WNL.53.5.1119

Rizo, 1998, C2-domains, structure and function of a universal Ca2+-binding domain, J Biol Chem, 273, 15879, 10.1074/jbc.273.26.15879

Yasunaga, 1999, A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness, Nat Genet, 21, 363, 10.1038/7693

Davis, 2000, Myoferlin, a candidate gene and potential modifier of muscular dystrophy, Hum Mol Genet, 9, 217, 10.1093/hmg/9.2.217

Britton, 2000, The third human FER-1-like protein is highly similar to dysferlin, Genomics, 68, 313, 10.1006/geno.2000.6290

Bittner, 1999, Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B, Nat Genet, 23, 141, 10.1038/13770

Gallardo, 2001, Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients, Neurology, 57, 2136, 10.1212/WNL.57.11.2136

Timpl, 1994, Collagen type VI, 207

Kuo, 1997, Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen, J Biol Chem, 272, 26522, 10.1074/jbc.272.42.26522

Pfaff, 1993, Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI, Exp Cell Res, 206, 167, 10.1006/excr.1993.1134

Wiberg, 2001, Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix, J Biol Chem, 276, 18947, 10.1074/jbc.M100625200

Bonaldo, 1998, Collagen VI deficiency induces early onset myopathy in the mouse: An animal model for Bethlem myopathy, Hum Mol Genet, 7, 2135, 10.1093/hmg/7.13.2135

Mercuri, 2000, Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: A novel entity?, Neuropediatrics, 31, 186, 10.1055/s-2000-7460

Driss, 2000, A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3, Neuromuscul Disord, 10, 240, 10.1016/S0960-8966(00)00099-7

Bushby, 1998, Abnormal merosin in adults: A new form of late onset muscular dystrophy not linked to chromosome 6q2, Brain, 121, 581, 10.1093/brain/121.4.581

Bushby, 1998, A new form of late onset muscular dystrophy not linked to chromosome 6q2, Brain, 121, 581, 10.1093/brain/121.4.581

Aravind, 1999, The fukutin protein family—of predicted enzymes modifying cell-surface molecules, Curr Biol, 9, R836, 10.1016/S0960-9822(00)80039-1

Breton, 1999, Structure/function studies of glycosyltransferases, Curr Opin Struct Biol, 9, 563, 10.1016/S0959-440X(99)00006-8

Beckmann, 1999, Workshop report: The 66th/67th ENMC sponsored workshop—the limbgirdle muscular dystrophies, Neuromuscul Disord, 9, 436, 10.1016/S0960-8966(99)00064-4

Nigro, 1996, The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by a mutation in the σ-sarcoglycan gene, Nat Genet, 14, 195, 10.1038/ng1096-195

Bönnemann, 1996, Genomic screening for β-sarcoglycan mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E), Hum Mol Genet, 5, 1953, 10.1093/hmg/5.12.1953

Eymard, 1997, Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy, Neurology, 48, 1227, 10.1212/WNL.48.5.1227

Angelini, 1998, Homozygous α-sarcoglycan mutation in two siblings: One asymptomatic and one steriod responsive mild limb-girdle muscular dystrophy patient, Muscle Nerve, 21, 769, 10.1002/(SICI)1097-4598(199806)21:6<769::AID-MUS9>3.0.CO;2-5

Ginjaar, 2000, Sarcoglycanopathies in Dutch patients with autosomal receissive limb girdle muscular dystrophy, J Neurol, 247, 524, 10.1007/s004150070151

Ben Hamida, 1983, Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia, Muscle Nerve, 6, 469, 10.1002/mus.880060702

Vainzof, 1999, Sarcoglycanopathies are responsible for 68% of severe autoso-, J Neurol Sci, 164, 44, 10.1016/S0022-510X(99)00040-4

Fanin, 1997, Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations, J Med Genet, 34, 973, 10.1136/jmg.34.12.973

Angelini, 1999, The clinical spectrum of sarcoglycanopathies, Neurology, 52, 176, 10.1212/WNL.52.1.176

Prelle, 1998, Sarcoglycan deficiency in a large Italian population of myopathic patients, Acta Neuropathol (Berl), 96, 509, 10.1007/s004010050926

Melacini, 1999, Heart involvement in muscular dystrophies due to sarcoglycan gene mutations, Muscle Nerve, 22, 473, 10.1002/(SICI)1097-4598(199904)22:4<473::AID-MUS8>3.0.CO;2-5

Gnecchi-Ruscone, 1999, Cardiomyopathy in Duchenne, Becker and sarcoglycanopathies: A role for coronary dysfunction?, Muscle Nerve, 22, 1549, 10.1002/(SICI)1097-4598(199911)22:11<1549::AID-MUS10>3.0.CO;2-A

Fadic, 1996, Brief report: Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy, N Engl J Med, 334, 362, 10.1056/NEJM199602083340604

Melacini, 2001, Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: Molecular and biochemical defects on cardiac and skeletal muscle, Transplant Proc, 33, 1596, 10.1016/S0041-1345(00)02607-5

Tsubata, 2000, Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy, J Clin Invest, 106, 655, 10.1172/JCI9224

Cohn, 2001, Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex, J Clin Invest, 107, R1, 10.1172/JCI11642

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, 1995, β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex, Nat Genet, 11, 266, 10.1038/ng1195-266

Lim, 1995, β-sarcoglycan (43 DAG): Characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12, Nat Genet, 11, 257, 10.1038/ng1195-257

Noguchi, 1995, Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy, Science, 270, 819, 10.1126/science.270.5237.819

Carrie, 1997, Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D), J Med Genet, 34, 470, 10.1136/jmg.34.6.470

Duggan, 1997, Mutations in the sarcoglycan genes in patients with myopathy, N Engl J Med, 336, 618, 10.1056/NEJM199702273360904

Passos-Bueno, 1999, Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G, Am J Med Genet, 82, 392, 10.1002/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0

dos Santos, 1998, Novel mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient: Mutations in brief no. 177. Online, Hum Mutat, 12, 214

Duclos, 1998, Beta-sarcoglycan: Genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate, Neuromuscul Disord, 8, 30, 10.1016/S0960-8966(97)00135-1

McNally, 1996, Mutations in the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy, Hum Mol Genet, 5, 1841, 10.1093/hmg/5.11.1841

Dincer, 1997, A biochemical genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey, Ann Neurol, 42, 222, 10.1002/ana.410420214

Nowak, 2000, Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion, Neuromuscul Disord, 20, 100, 10.1016/S0960-8966(99)00063-2

Bönnemann, 2002, Primary γ-sarcoglycanopathy (LGMD 2C): Broadening of the mutational spectrum and diagnostic value of the immunohistochemical profile, Neuromuscul Disord, 12, 273, 10.1016/S0960-8966(01)00276-0

McNally, 1996, Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation, Am J Hum Genet, 59, 1040

Piccolo, 1996, A founder mutation in the gamma-sarcoglycan gene of gypsies possible predating their migration out of India, Hum Mol Genet, 5, 2019, 10.1093/hmg/5.12.2019

Merlini, 2000, Homogeneous phenotype of the gypsy limb-girdle MD with the gammasarcoglycan C283Y mutation, Neurology, 54, 1075, 10.1212/WNL.54.5.1075

Moreira, 1998, A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies, J Med Genet, 35, 951, 10.1136/jmg.35.11.951

Dincer, 2000, A homozygous nonsense mutation in δ-sarcoglycan in exon 3 in a case of LGMD 2F, Neuromuscul Disord, 10, 247, 10.1016/S0960-8966(00)00100-0

Carbone, 2000, Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCK-emia, Neurology, 54, 1373, 10.1212/WNL.54.6.1373

Herrmann, 2000, Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy, Hum Mol Genet, 9, 2335, 10.1093/oxfordjournals.hmg.a018926

Betz, 2001, Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease, Nat Genet, 28, 218, 10.1038/90050

Torbergsen, 1975, A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen, Acta Neurol Scand, 51, 225, 10.1111/j.1600-0404.1975.tb07603.x

Ricker, 1989, Rippling muscle disease, Arch Neurol, 46, 405, 10.1001/archneur.1989.00520400065020

Tateyama, 2002, Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy, Neurology, 58, 323, 10.1212/WNL.58.2.323

Bushby, 2000, Dysferlin and muscular dystrophy, Acta Neurol Belg, 100, 142

Aoki, 2001, Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy, Neurology, 57, 271, 10.1212/WNL.57.2.271

Fanin, 2001, Calpain-3 and dysferlin protein screening in patients with limbgirdle dystrophy and myopathy, Neurology, 56, 660, 10.1212/WNL.56.5.660

Linssen, 1997, Miyoshi-type distal muscular dystrophy: Clinical spectrum in 24 Dutch patients, Brain, 120, 1989, 10.1093/brain/120.11.1989

Argov, 2000, Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features, Brain, 123, 1229, 10.1093/brain/123.6.1229

Mahjneh, 2001, Dysferlinopathy (LGMD2B): A 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations, Neuromuscul Disord, 11, 20, 10.1016/S0960-8966(00)00157-7

Miyoshi, 1986, Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: Seventeen cases in eight families including an autopsied case, Brain, 109, 31, 10.1093/brain/109.1.31

Illa, 2001, Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype, Ann Neurol, 49, 130, 10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0

Weiler, 1999, Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s), Hum Mol Genet, 8, 871, 10.1093/hmg/8.5.871

Illarioshkin, 2000, Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy, Neurology, 55, 1931, 10.1212/WNL.55.12.1931

Vilchez, 2001, Clinical variability of dysferlin myopathy in a population cluster from a founder mutation in Valencia (Spain), Neurology, 56, A209

Camacho Vanegas, 2001, Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI, Proc Natl Acad Sci U S A, 98, 7516, 10.1073/pnas.121027598

Bethlem, 1976, Benign myopathy, with autosomal dominant inheritance: A report on three pedigrees, Brain, 99, 91, 10.1093/brain/99.1.91

Jöbsis, 1996, Genetic localization of Bethlem myopathy, Neurology, 46, 779, 10.1212/WNL.46.3.779

Jöbsis, 1996, Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures, Nat Genet, 14, 113, 10.1038/ng0996-113

Speer, 1996, Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37, Hum Mol Genet, 5, 1043, 10.1093/hmg/5.7.1043

Pan, 1998, Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy, Hum Mol Genet, 7, 807, 10.1093/hmg/7.5.807

Jöbsis, 1999, Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures, Brain, 122, 649, 10.1093/brain/122.4.649

Merlini, 1994, Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures: Description of two new families, Neuromuscul Disord, 4, 503, 10.1016/0960-8966(94)90091-4

Pepe, 2002, Bethlem Myopathy (BETHLEM): 86th ENMC international workshop, 10–11 November 2000, Naarden, The Netherlands, Neuromuscul Disord, 12, 296, 10.1016/S0960-8966(01)00275-9

Haq, 1999, Respiratory muscle involvement in Bethlem myopathy, Neurology, 52, 174, 10.1212/WNL.52.1.174

Lamande, 1998, Reduced collagen VI causes Bethlem myopathy: A heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency, Hum Mol Genet, 7, 981, 10.1093/hmg/7.6.981

Pepe, 1999, A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy: A diagnostic approach in the mutations' screening of type VI collagen, Neuromuscul Disord, 9, 264, 10.1016/S0960-8966(99)00014-0

Lamande, 1999, Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion, J Biol Chem, 274, 21817, 10.1074/jbc.274.31.21817

Sasaki, 2000, A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding, FASEB J, 14, 761, 10.1096/fasebj.14.5.761

Lamande, 2002, Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations, J Biol Chem, 18, 1949, 10.1074/jbc.M109932200

Bushby, 1999, The limb-girdle muscular dystrophies: Diagnostic guidelines, Eur J Paediatr Neurol, 3, 53, 10.1016/S1090-3798(99)80013-0

Naom, 1998, Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy, Neuromuscul Disord, 8, 495, 10.1016/S0960-8966(98)00065-0

Gray, 2001, Secondary changes in dysferlin expression, Neuromuscul Disord, 11, 627

Piccolo, 2000, Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies, Ann Neurol, 48, 902, 10.1002/1531-8249(200012)48:6<902::AID-ANA11>3.0.CO;2-Z

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

Anderson, 2000, Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies), Neuromuscul Disord, 10, 553, 10.1016/S0960-8966(00)00143-7

Stedman, 2000, Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: Alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors, Hum Gene Ther, 11, 777, 10.1089/10430340050015671

Greelish, 1999, Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector, Nat Med, 5, 439, 10.1038/7439

Bönnemann, 1997, Strength improvement on prednisone in a patient with limb-girdle muscular dystrophy 2C (primary γ-sarcoglycanopathy), Ann Neurol, 42, 531