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Items: 1 to 20 of 123

1.

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA.

J Clin Invest. 2000 Sep;106(5):655-62.

2.

Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.

Sylvius N, Duboscq-Bidot L, Bouchier C, Charron P, Benaiche A, Sébillon P, Komajda M, Villard E.

Am J Med Genet A. 2003 Jul 1;120A(1):8-12.

PMID:
12794684
3.

A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.

Kärkkäinen S, Miettinen R, Tuomainen P, Kärkkäinen P, Heliö T, Reissell E, Kaartinen M, Toivonen L, Nieminen MS, Kuusisto J, Laakso M, Peuhkurinen K.

J Mol Med (Berl). 2003 Dec;81(12):795-800. Epub 2003 Oct 15.

PMID:
14564412
4.

Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).

Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP.

Neurogenetics. 1997 May;1(1):49-58.

PMID:
10735275
5.

[Genetics of dilated cardiomyopathy].

Osterziel KJ, Scheffold T, Perrot A, Dietz R; Netzwerk Myokardiale Erkrankungen..

Z Kardiol. 2001 Jul;90(7):461-9. Review. German.

PMID:
11515275
6.

Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V.

Eur J Hum Genet. 2009 Sep;17(9):1148-53. doi: 10.1038/ejhg.2009.17. Epub 2009 Mar 4.

7.

Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex.

Sakamoto A, Ono K, Abe M, Jasmin G, Eki T, Murakami Y, Masaki T, Toyo-oka T, Hanaoka F.

Proc Natl Acad Sci U S A. 1997 Dec 9;94(25):13873-8.

8.

Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy.

Franz WM, Müller M, Müller OJ, Herrmann R, Rothmann T, Cremer M, Cohn RD, Voit T, Katus HA.

Lancet. 2000 May 20;355(9217):1781-5.

PMID:
10832829
9.

Current perspective new insights into the molecular basis of familial dilated cardiomyopathy.

Sinagra G, Di Lenarda A, Brodsky GL, Taylor MR, Muntoni F, Pinamonti B, Carniel E, Driussi M, Bristow MR, Mestroni L; Heart Muscle Disease Study Group..

Ital Heart J. 2001 Apr;2(4):280-6. Review.

PMID:
11374497
10.
11.

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L.

J Am Coll Cardiol. 2002 Mar 20;39(6):981-90.

12.

Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.

Feng J, Yan J, Buzin CH, Towbin JA, Sommer SS.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):119-26.

PMID:
12359139
13.

A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy.

Bies RD, Maeda M, Roberds SL, Holder E, Bohlmeyer T, Young JB, Campbell KP.

J Mol Cell Cardiol. 1997 Dec;29(12):3175-88.

PMID:
9441825
14.

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.

Barresi R, Di Blasi C, Negri T, Brugnoni R, Vitali A, Felisari G, Salandi A, Daniel S, Cornelio F, Morandi L, Mora M.

J Med Genet. 2000 Feb;37(2):102-7.

15.

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).

Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM.

Hum Mol Genet. 1996 Dec;5(12):1953-61.

PMID:
8968749
16.

Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex.

Hack AA, Lam MY, Cordier L, Shoturma DI, Ly CT, Hadhazy MA, Hadhazy MR, Sweeney HL, McNally EM.

J Cell Sci. 2000 Jul;113 ( Pt 14):2535-44.

17.

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15.

PMID:
14567970
18.

Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.

Bissler JJ, Tsoras M, Göring HH, Hug P, Chuck G, Tombragel E, McGraw C, Schlotman J, Ralston MA, Hug G.

Lab Invest. 2002 Mar;82(3):335-44.

PMID:
11896212
19.

Familial dilated cardiomyopathy with troponin T K210del mutation.

Martins E, Silva-Cardoso J, Alves C, Pereira H, Soares B, Damasceno A, Abreu-Lima C, Amorim A, Rocha-Gonçalves F.

Rev Port Cardiol. 2006 Mar;25(3):295-300.

PMID:
16789403
20.

The heart in limb girdle muscular dystrophy.

van der Kooi AJ, de Voogt WG, Barth PG, Busch HF, Jennekens FG, Jongen PJ, de Visser M.

Heart. 1998 Jan;79(1):73-7.

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