| 1 | LGMD2C, SGCG
|
| New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
|
| Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Lřkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J.
|
| Brain Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. 2020
|
| 2 | SGCG
|
| Expression, purification, and structural analysis of the full-length human integral membrane protein γ-sarcoglycan
|
| Jamaleddine M, Harris MS, Liyanage L, Cook GA.
|
| Protein Expr Purif. Mar;167:105525. doi: 10.1016/j.pep.2019.105525. Epub 2019 Nov 1. 2020
|
| 3 | LGMD2C, SGCG
|
| γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.
|
| Dalichaouche I, Sifi Y, Roudaut C, Sifi K, Hamri A, Rouabah L, Abadi N, Richard I.
|
| Muscle Nerve. Jul;56(1):129-135. doi: 10.1002/mus.25443. Epub 2017 Feb 10. 2017
|
| 4 | GJB6, SGCG
|
| The Sarcoglycan complex is expressed in the cerebrovascular system and is specifically regulated by astroglial Cx30 channels
|
| Boulay AC, Saubaméa B, Cisternino S, Mignon V, Mazeraud A, Jourdren L, Blugeon C, Cohen-Salmon M.
|
| Front Cell Neurosci. Feb 2;9:9. doi: 10.3389/fncel.2015.00009. 2015
|
| 5 | LGMD2C, SGCG
|
| Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.
|
| Okizuka Y, Takeshima Y, Itoh K, Zhang Z, Awano H, Maruyama K, Kumagai T, Yagi M, Matsuo M.
|
| BMC Med Genet. Mar 30;11:49. doi: 10.1186/1471-2350-11-49. 2010
|
| 6 | LGMD2C, LGMD2D, LGMD2E, LGMD2F, SGCA, SGCB, SGCD, SGCG
|
| Revised spectrum of mutations in sarcoglycanopathies.
|
| Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J.
|
| Eur J Hum Genet 16(7):793-803. Epub 2008 Feb 20.
2008
|
| 7 | LGMD2C, SGCG
|
| A novel mutation in two families with limb-girdle muscular dystrophy type 2C. 2006 PMID:
|
| Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM.
|
| Neurology Jul 11;67(1):167-9. doi: 10.1212/01.wnl.0000223600.78363.dd. 2006
|
| 8 | LGMD2C, SGCG
|
| C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population.
|
| Todorova A, et al.
|
| Hum Mutat 14(1):40-4. 1999
|
| 9 | LGMD2C, SGCG
|
| Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.
|
| Lasa A, Piccolo F, de Diego C, Jeanpierre M, Colomer J, Rodriguez MJ, Urtizberea JA, Baiget M, Kaplan J, Gallano P.
|
| Eur J Hum Genet 6(4):396-9. 1998
|
| 10 | D13S322, LGMD2C, SGCG
|
| Physical mapping and distance refinement of a marker (D13S232) in complete linkage disequilibrium with limb girdle muscular dystrophy type 2C (LGMD2C). (abstr)
|
| Rochelle JM, et al.
|
| Am J Hum Genet 61 : A392. 1997
|
| 11 | LGMD2C, SGCG
|
| Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.
|
| Jung D, et al.
|
| FEBS Lett 381 : 15-20. 1996
|
| 12 | LGMD2C, SGCG
|
| Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
|
| McNally EM, et al.
|
| Am J Hum Genet 59 : 1040-1047. 1996
|
| 13 | LGMD2C, SGCG
|
| A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India.
|
| Piccolo F, et al.
|
| Hum Mol Genet 5 : 2019-2022. 1996
|
| 14 | SGCG, LGMD2C
|
| Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
|
| Noguchi S, et al.
|
| Science 270 : 819-822. 1995
|