| 1 | LGMD2D, TCAP
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| Telethonin-deficiency initially presenting as a congenital muscular dystrophy.
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| Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB.
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| Neuromuscul Disord 21(6):433-8. Epub 2011 May 6. Review.
2011
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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | LGMD2D, LGMD2E
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| Muscular dystrophy and allied disorders : research strategies. Understanding the heterogeneity of the limb-girdle muscular dystrophies.
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| Bushby K.
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| Biochem Soc Trans 24 : 489-496. 1996
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| 8 | LGMD2A, LGMD2C, LGMD2D, LGMD2E, LGMD2F
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| The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
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| Vainzof M, et al.
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| Hum Mol Genet 5 : 1963-1969. 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 | LGMD2D
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| Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
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| Romero NB, et al.
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| C R Acad Sci III 317 : 70-76. 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 | LGMD2D
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| Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.
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| Passos-Bueno MR, et al.
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| Hum Mol Genet 2 : 1945-1947. 1993
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| 16 | LGMD2A, LGMD2C, LGMD2D
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| Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.
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| Passos-Bueno MR, et al.
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| Hum Mol Genet 2 : 201-202. 1993
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| 17 | 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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