The sarcoglycan complex in limb-girdle muscular dystrophy

Current Opinion in Neurology

Volumn 11, Issue 5, 1998, Pages 443-452

  Lim, Leland E ^a   Campbell, Kevin P ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DYSTROPHIN; GLYCOPROTEIN; SARCOGLYCAN;

ADENOVIRUS; AMINO TERMINAL SEQUENCE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOMYOPATHY; CHROMOSOME 13Q; CYTOMEGALOVIRUS; GENE MUTATION; GENE THERAPY; GENE TRANSFER; GENETIC LINKAGE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; NONHUMAN; PATHOGENESIS; PROTEIN DOMAIN; PROTEIN SECONDARY STRUCTURE; REVIEW;

ANIMALS; CYTOSKELETAL PROTEINS; DISEASE MODELS, ANIMAL; GENE THERAPY; HUMANS; MEMBRANE GLYCOPROTEINS; MUSCULAR DYSTROPHIES; MUTATION;

EID: 0031722943     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199810000-00006     Document Type: Review

References (103)

1. Jackson CE, Strehler DA. Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. Pediatrics 1968; 41:495-502.
2. Bushby KM. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies. Neuromusc Disord 1995; 5:71-74.
3. Bushby KMD, Beckmann JS. The limb-girdle muscular dystrophies: proposal for a new nomenclature. Neuromusc Disord 1995; 5:337-343.
4. Gilchrist JM, Pericak-Vance MA, Silverman L, Roses AD. Clinical and genetic investigations in autosomal dominant limb-girdle muscular dystrophy. Neurology 1988; 37:5-9.
5. Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 1992; 50:1211-1217.
6. Speer MC, Gilchrist JM, Chutkow JG, McMichael R, Westbrook CA, Stajich JM, et al. Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. Am J Hum Genet 1995; 57:1371-1376.
7. van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet 1997; 60:891-895.
8. Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet 1998; 18:365-368.
9. Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III 1991; 312:141-148.
10. Young K, Foroud T, Williams P, Jackson CE, Beckmann JS, Cohen D, et al. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics 1992; 13:1370-1371.
11. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, et al. Mutations in the proteolytic enzyme, calpain 3, cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81:27-40.
12. Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994; 3:455-457.
13. Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SK, Vasquez L, et al. Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. Genomics 1995; 27:192-195.
14. Bashir R, Keers S, Strachan T, Passos-Bueno R, Zatz M, Weissenbach J, et al. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 1996; 33:46-52.
15. Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78:625-633.
16. Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet 1995; 10:243-245.
17. Ljunggren A, Duggan D, McNally E, Boylan KB, Gama CH, Kunkel LM, Hoffman EP. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995; 38:367-372.
18. Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, et al. β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet 1995; 11:257-265.
19. Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, et al. β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet 1995; 11:266-273.
20. Ben Othmane K, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Blel S, Carter SC, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet 1992; 2:315-317.
21. Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Mol Genet 1993; 2:1423-1428.
22. Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270:819-822.
23. Jung D, Leturcq F, Sunada Y, Duclos F, Tomé FMS, Moomaw C, et al. Absence of γ-sarcoglycan (35DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett 1996; 381:15-20.
24. Piccolo F, Jeanpierre M, Leturcq F, Dode C, Azibi K, Toutain A, et al. A founder mutation in the γ-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet 1996; 5:2019-2022.
25. Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 1996; 5:815-820.
26. Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nature Genet 1996; 14:195-198.
27. Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 1997; 61:151-159.
28. Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, et al. 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 1998; 63:140-147.
29. Campbell KP, Kahl SD. Association of dystrophin and an integral membrane glycoprotein. Nature 1989; 338:259-262.
30. Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990; 345:315-319.
31. Yoshida M, Ozawa E. Glycoprotein complex anchoring dystrophin to the sarcolemma. J Biochem 1990; 108:748-752.
32. Ervasti JM, Campbell KP. Membrane organization ot the dystrophin-glycoprotein complex. Cell 1991; 66:1121-1131.
33. Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51:919-928.
34. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988; 53:219-228.
35. Rybakova IN, Amann KJ, Ervasti JM. A new model for the interaction of dystrophin with F-actin. J Cell Biol 1996; 135:661-672.
36. Rybakova IN, Ervasti JM. Dystrophin-glycoprotein complex is monomeric and stabilizes actin filaments in vitro through a lateral association. J Biol Chem 1997; 272:28771-28778. This paper describes the interactions of dystrophin with the actin cytoskeleton using a variety of approaches, and confirms the stoichiometry of the DGC components.
37. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. Primary structure ot dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1991; 355:696-702.
38. Gee SH, Blacher RW, Douville PJ, Provost PR, Yurchenco PD, Carbonetto S. Laminin-binding protein 120 from brain is closely related to the dystrophin-associated protein, dystroglycan, and binds with high affinity to the major heparin-binding domain of laminin. J Biol Chem 1993; 268:14972-14980.
39. Jung D, Yang B, Meyer J, Chamberlain JS, Campbell KP. Identification and characterization of the dystrophin anchoring site on β-dystroglycan. J Biol Chem 1995; 270:27305-27310.
40. Adams ME, Butler MH, Dwyer TM, Peters MF, Mumane AA, Froehner SC. Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution. Neuron 1993; 11:531-540.
41. Yang B, Ibraghimov-Beskrovnaya O, Moomaw CR, Slaughter CA, Campbell KP. Heterogeneity of the 59 kDa dystrophin-associated protein revealed by cDNA cloning and expression. J Biol Chem 1995; 269:6040-6044.
42. Crosbie RH, Heighway J, Venzke DP, Lee JC, Campbell KP. Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. J Biol Chem 1997; 272:31221-31224. A recent characterization of a previously elusive member of the DGC. The structure of sarcospan is quite distinct from that of other DGC components.
43. Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 1993; 268:23739-23742.
44. McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc Natl Acad Sci USA 1994; 91:9690-9694.
45. Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 1996; 5:1179-1186.
46. Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, et al. Characterization of δ-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J Biol Chem 1996; 271:32321-32329.
47. Brenman JE, Chao DS, Xia H, Aldape K, Bredt DS. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 1995; 82:743-752.
48. Blake DJ, Nawrotzki R, Peters MF, Froehner SC, Davies KE. Isoform diversity of dystrobrevin, the murine 87-kDa postsynaplic protein. J Biol Chem 1996; 271:7802-7810.
49. Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM. Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Hum Mol Genet 1996; 5:489-496.
50. Sadoulet-Puccio HM, Rajala M, Kunkel LM. Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A 1997; 94:12413-12418.
51. Song KS, Scherer PE, Tang Z, Okamoto T, Li S, Chafel M, et al. Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem 1996; 271:15160-15165.
52. McNally EM, de Sá Moreira E, Duggan DJ, Bonnemann CG, Lisanti MP, Lidov HGW, et al. Caveolin-3 in muscular dystrophy. Hum Mol Genet 1998; 7:871-877.
53. Crosbie RH, Yamada H, Venzke DP, Lisanti MP, Campbell KP. Caveolin-3 is not an integral component of the dystrophin glycoprotein complex. FEBS Lett 1990; 427:279-282.
54. Weller B, Karpati G, Carpenter S. Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experimental lengthening contractions. J Neurol Sci 1990; 100:9-13.
55. Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci USA 1993; 90:3710-3714.
56. Petrof BJ. The molecular basis of activity-induced muscle injury in Duchenne muscular dystrophy. Mol Cell Biochem 1998; 179:111-123.
57. Hoffman EP, Kunkel LM. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 1989; 2:1019-1029.
58. Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995; 80:675-679.
59. Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y, Noguchi S. Dystrophin-associated proteins in muscular dystrophy. Hum Mol Genet 1995; 4:1711-1716.
60. Straub V, Campbell KP. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol 1997; 10:168-175.
61. Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve 1998; 21:421-438. An excellent overview of the DGC and muscular dystrophies caused by mutations in this complex is presented. Important clinical and diagnostic considerations when evaluating patients with muscular dystrophy are highlighted.
62. Tomé FMS, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994; 317:351-357.
63. Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchai N, Guicheney P, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994; 3:1657-1661.
64. Solovyev VV, Salamov AA. Predicting α-helix and β-strand segments of globular proteins. Comput Appl Biosci 1994; 10:661-669.
65. Ettinger AJ, Feng G, Sanes JR. ε-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 20. J Biol Chem 1997; 272:32534-32538. This paper and [66*] reports the characterization of a novel sarcoglycan protein that is expressed primarily in nonmuscle tissues. This protein has high homology with α-sarcoglycan, and may be a component of a nonmuscle sarcoglycan complex.
66. McNally EM, Ly CT, Kunkel LM. Human ε-sarcoglycan is highly related to 3-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett 1998; 422:27-32. This paper and [65*] characterize ε-sarcoglycan and provide information about its gene structure and chromosomal localization.
67. Matsumura K, Tomé FMS, Collin H, Azibi K, Chaouch M, Kaplan JC, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992; 359:320-322.
68. Passos-Bueno MR, Oliveira JR, Bakker E, Anderson RD, Marie SK, Vainzof M, et al. Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum Mol Genet 1993; 2:1945-1947.
69. Fardeau M, Matsumura K, Tomé FMS, Collin H, Leturcq F, Kaplan JC, Campbell KP. Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. C R Acad Sci III 1993; 316:799-804.
70. Romero NB, Tomé FMS, Leturcq F, el Kerch FE, Azibi K, Bachner L, et al. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50kDa dystrophin-associated glycoprotein) deficiency. C R Acad Sci III 1994; 317:70-76.
71. Yoshida M, Suzuki A, Yamamoto H, Mizuno Y, Ozawa E. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside. Eur J Biochem 1994; 222:1055-1061.
72. Mizuno Y, Noguchi S, Yamamoto H, Yoshida M, Suzuki A, Hagiwara Y, et al. Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Commun 1994; 203:979-983.
73. Duclos F, Broux O, Bourg N, Straub V, Feldman GL, Sunada Y, et al. β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromusc Disord 1998; 8:30-38.
74. Roberds SL, Ervasti JM, Anderson RD, Ohlendieck K, Kahl SD, Zoloto D, Campbell KP. Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster. J Biol Chem 1993; 268:11496-11499.
75. Iwata Y, Nakamura H, Mizuno Y, Yoshida M, Ozawa E, Shigekawa M. Defective association of dystrophin with sarcolemmal glycoproteins in the cardiomyopathic hamster heart. FEBS Lett 1993; 329:227-231.
76. Straub V, Duclos F, Venzke DP, Lee JC, Cutshall S, Leveille CJ, Campbell KP. Molecular pathogenesis of muscle degeneration in the d-sarcoglycan deficient hamster. Am J Physiol 1998 (in press).
77. Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, et al. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996; 5:1963-1969.
78. Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, et al. Mutational diversity and hot spots in the α-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997; 34:470-475. This is an excellent and extensive analysis of α-sarcoglycan mutations. Remarkable prevalence of R77C mutation in multiple families is demonstrated.
79. Duggan DJ, Hoffman EP. Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex. Neuromusc Disord 1996; 6:475-482.
80. Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997; 336:618-624. This paper reports the incidence of sarcoglycan complex mutations in dystrophin-positive muscular dystrophy.
81. Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP. Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics 1997; 1:49-58.
82. Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990; 63:827-834.
83. Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993; 73:1251-1254.
84. Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, et al. Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 1996; 5:1953-1961.
85. Bönnemann CG, Wong J, Ben Hamida C, Ben Hamida M, Hentati F, Kunkel LM. LGMD 2E in Tunisia is caused by a homozygous missense mutation in β-sarcoglycan exon 3. Neuromusc Disord 1998; 8:193-197.
86. Passos-Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, et al. Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum Mol Genet 1995; 4:1163-1167.
87. McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sá Moreira E, Lidov HGW, et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 1996; 59:1040-1047.
88. Angelini C, Fanin M, Menegazzo E, Freda MP, Duggan DJ, Hoffman EP. Homozygous α-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. Muscle Nerve 1998; 21:769-775. This paper highlights the range in severity of LGMD as a result of identical mutations in siblings. It also demonstrates the potential use of steroids in the amelioration of this disease.
89. Eymard B, Romero NB, Leturcq F, Piccolo F, Carrie A, Jeanpierre M, et al. Primary adhalinopathy (α-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997; 48:1227-1234. This paper demonstrates an elegant correlation between sarcoglycan expression levels and disease severity, as well as a correlation between mutation type and severity.
90. Higuchi I, Iwaki H, Kawai H, Endo T, Kunishige M, Fukunaga H, et al. New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency. J Neurol Sci 1997; 153:100-105.
91. Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol 1997; 12:329-343.
92. Towbin JA. The role of cytoskeletal proteins in cardiomyopathies. Curr Opin Cell Biol 1998; 10:131-139.
93. Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandoski PJ, Campbell KP, Lotz BP. Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med 1996; 334:362-366.
94. Barresi R, Confalonieri V, Lanfossi M, Di Blasi C, Torchiana E, Mantegazza R, et al. Concomitant deficiency of beta- and gamma-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects. Acta Neuropathol (Berl) 1997; 94:28-35. This is the first report of dilated cardiomyopathy with identified mutations in the sarcoglycan complex.
95. Van der Kooi AJ, de Voogt WG, Barth PG, Busch HF, Jenneken FG, Jongen PJ, de Visser M. The heart in limb-girdle muscular dystrophy. Heart 1998; 79:73-77. Along with [91*], this paper identifies sarcoglycan complex mutations that cause cardiomyopathy, with more extensive evaluation of cardiac function.
96. Olson TM, Michels W, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998; 280:750-752. Mutations in a nonforce-generating protein that cause cardiomyopathy are identified. A new hypothesis for the pathogenesis of dilated and hypertrophic cardiomyopathy is proposed, which offers a possible explanation for the observed cases discussed in [91] and [92].
97. Homburger F, Baker JR, Nixon CW, Whitney R. Primary, generalized polymyopathy and cardiac necrosis in an inbred line of Syrian hamsters. Med Exp 1962; 6:339-345.
98. Mizuno Y, Noguchi S, Yamamoto H, Yoshida M, Nonaka I, Hirai S, Ozawa E. Sarcoglycan complex is selectively lost in dystrophic hamster muscle. Am J Pathol 1995; 146:630-536.
99. Nigro V, Okazaki Y, Belsito A, Piluso G, Matsuda Y, Politano L, et al. Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 1997; 6:601-607. This paper reports a 5′ deletion in hamster δ-sarcoglycan gene that results in cardiac and skeletal muscle disease.
100. Sakamoto A, Ono K, Abe M, Jasmin G, Eki T, Murakami Y, et al. Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, δ-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci USA 1997; 94:13873-13878.
101. Duclos F, Strub V, Moore SA, Venzke DP, Hrstka RF, Crosbie RH, Durbeej M, et al. Progressive muscular dystrophy in δ-sarcoglycan deficient mice. J Cell Biol 1998 (in press).
102. Davies KE. Challenges in Duchenne muscular dystrophy. Neuromusc Disord 1997; 7:482-486.
103. Holt KH, Lim LE, Straub V, Venzke DP, Duclos F, Anderson RD. et al. Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using δ-sarcoglycan gene transfer. Mol Cell 1998; 1:841-848. This is the first report of successful gene transfer for a sarcoglycanopathy. The potential for the development of treatment for human LGMD is highlighted.