| 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 | 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
|
| 3 | BCL2, LGMD2C
|
| Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients.
|
| Hadj Salem I, Kamoun F, Louhichi N, Trigui M, Triki C, Fakhfakh F.
|
| Mol Biol Rep. Jul;39(7):7479-86. doi: 10.1007/s11033-012-1581-4. Epub 2012 Feb 25. 2012
|
| 4 | 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
|
| 5 | 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
|
| 6 | 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
|
| 7 | LGMD2C
|
| Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients.
|
| Calvo F, Teijeira S, Fernandez JM, Teijeiro A, Fernandez-Hojas R, Fernandez-Lopez XA, Martin E, Navarro C.
|
| Neuromuscul Disord 10(8):560-6. 2000
|
| 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 | LGMD2A, LGMD2C, LGMD2D, LGMD2E, LGMD2F
|
| The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
|
| Vainzof M, et al.
|
| Hum Mol Genet 5 : 1963-1969. 1996
|
| 15 | LGMD2C
|
| Neurosensory hearing loss in secondary adhalinopathy.
|
| Oexle K, et al.
|
| Neuropediatrics 27 : 32-36. 1996
|
| 16 | DFNA3,DFNB1,LGMD2C,TUBA3C
|
| A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C).
|
| Guilford P, et al.
|
| Genomics 29 : 163-169. 1995
|
| 17 | SGCG, LGMD2C
|
| Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
|
| Noguchi S, et al.
|
| Science 270 : 819-822. 1995
|
| 18 | LGMD2C
|
| Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C).
|
| Ben Othmane K, et al.
|
| Am J Hum Genet 57 : 732-734. 1995
|
| 19 | LGMD2C
|
| Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa.
|
| El Kerch F, et al.
|
| J Med Genet 31 : 342-343. 1994
|
| 20 | LGMD2C, SGCA
|
| Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.
|
| Azibi K, et al.
|
| Hum Mol Genet 2 : 1423-1428. 1993
|
| 21 | LGMD2C
|
| Sublocalization of autosomal recessive Duchenne-like muscular dystrophy (DLMD) to a 5 cM region of 13q12.
|
| Loeb D, et al.
|
| Am J Hum Genet 53 : 1038. 1993
|
| 22 | LGMD2A, LGMD2C, LGMD2D
|
| Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.
|
| Passos-Bueno MR, et al.
|
| Hum Mol Genet 2 : 201-202. 1993
|
| 23 | LGMD2C
|
| Linkage of Tusinian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.
|
| Ben Othmane K, et al.
|
| Nat Genet 2 : 315-317. 1992
|