| 1 | SGCA, LGMD2D
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| Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.
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| Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, Vincent-Lacaze N, Perez N, Udd B, Danos O, Richard I.
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| Hum Mol Genet 17(9):1214-21. Epub 2008 Feb 5. 2008
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| 2 | LGMD2C, LGMD2D, LGMD2E, LGMD2F, SGCA, SGCB, SGCD, SGCG
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| Revised spectrum of mutations in sarcoglycanopathies.
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| Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J.
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| Eur J Hum Genet 16(7):793-803. Epub 2008 Feb 20.
2008
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| 3 | LGMD2D, SGCA
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| Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D.
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| Rodino-Klapac LR, Lee JS, Mulligan RC, Clark KR, Mendell JR.
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| Neurology 71(4):240-7. Epub 2008 Jun 4.PMID: 18525034 2008
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| 4 | SGCA, SGCD, SSPN
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| Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy.
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| Coral-Vazquez R, et al.
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| Cell 98(4):465-74. 1999
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| 5 | CAPN3, SGCA, SGCB, TTN
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| Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.
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| Fougerousse F, Durand M, Suel L, Pourquie O, Delezoide AL, Romero NB, Abitbol M, Beckmann JS.
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| Genomics 48(2):145-56. 1998
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| 6 | DMD, LAMB2, SGCA, SGCB
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| Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.
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| Jones KJ, Kim SS, North KN.
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| J Med Genet 35(5):379-86. 1998
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| 7 | LGMD2D, SGCA
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| Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
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| Carrie A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tome FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M.
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| J Med Genet 34(6):470-5. 1997
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| 8 | SGCA, LGMD2D
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| Brief report : deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy.
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| Fadic R, et al.
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| N Engl J Med 334 : 362-366. 1996
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| 9 | SGCA, LGMD2D
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| Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.
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| Kawai H, et al.
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| J Clin Invest 96 : 1202-1207. 1995
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| 10 | SGCA, LGMD2D
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| Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
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| Ljunggren A, et al.
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| Ann Neurol 38 : 367-372. 1995
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| 11 | SGCA, LGMD2D
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| Primary adhalinopathy : a common cause of autosomal recessive muscular dystrophy of variable severity.
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| Piccolo F, et al.
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| Nat Genet 10 : 243-245. 1995
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| 12 | SGCA, LGMD2D
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| A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
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| Passos Bueno MR, et al.
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| Hum Mol Genet 4 : 1163-1167. 1995
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| 13 | SGCA, SNTA1, SNTB1, DMD
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| Molecular organization at the glycoprotein-complex-binding site of dystrophin.
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| Suzuki A, et al.
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| Eur J Biochem 220 : 283-292. 1994
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| 14 | SGCA, LGMD2D
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| Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
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| Roberds SL, et al.
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| Cell 78 : 625-633. 1994
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| 15 | SGCA
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| Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
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| McNally EM, et al.
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| Proc Natl Acad Sci U S A 91 : 9690-9694. 1994
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| 16 | SGCA
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| Adhalin gene polymorphism.
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| Allamand V, et al.
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| Hum Mol Genet 3 : 2269. 1994
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| 17 | SGCA
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| Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (Adhalin).
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| Roberds SL, et al.
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| J Biol Chem 268 : 23739-23742. 1993
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| 18 | LGMD2C, SGCA
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| Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.
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| Azibi K, et al.
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| Hum Mol Genet 2 : 1423-1428. 1993
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| 19 | LGMD2D, SGCA
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| Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.
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| Matsumura K, et al.
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| Nature 359 : 320-322. 1992
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| 20 | DAG1, SGCA
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| Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix.
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| Ibraghimov-Beskrovnaya O, et al.
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| Nature 355 : 696-702. 1992
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