Mitochondrial Mutations.Mitochondrial point mutations and/or deletions have been reported in individuals with IDC and FDC (see references below). However, many of these mutations are found in control subjects as well and may not be the primary cause of the disease, but rather a cofactor in its development (see last two references for review and discussion).

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Reports (dilated cardiomyopathy).

Title. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy.

Authors. Arbustini E, Diegoli M, Fasani R, Grasso M, Morbini P, Banchieri N, Bellini O, Dal Bello B, Pilotto A, Magrini G, Campana C, Fortina P, Gavazzi A, Narula J, Vigano M.

Journal. Am J Pathol 1998;153:1501-10.

PMID: 9811342

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Title. Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy.

Authors. Li YY, Maisch B, Rose ML, Hengstenberg C.

Journal. J Mol Cell Cardiol 1997;29:2699-709.

PMID: 9344764

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Title. Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy.

Authors. Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, Pierpont ME, Fricker FJ, Lipshultz SE, Perez-Atayde A.

Journal. Cardiovasc Res 1996;31:306-13.

PMID: 8730408

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Title. Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial sampling.

Authors. Remes AM, Hassinen IE, Ikaheimo MJ, Herva R, Hirvonen J, Peuhkurinen KJ.

Journal. J Am Coll Cardiol 1994;23:935-42.

PMID: 8106699

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Reports (familial dilated cardiomyopathy).

Title. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

Authors. Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S.

Journal. Hum Mutat 1994;3:37-43.

PMID: 7906985

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Title. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA.

Authors. Suomalainen A, Paetau A, Leinonen H, Majander A, Peltonen L, Somer H.

Journal. Lancet 1992;340:1319-20.

PMID: 1360038

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Reviews of mitochondrial mutations in DCM/FDC.

Title. Familial dilated cardiomyopathy:  evidence for genetic and phenotypic heterogeneity.

Authors. Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, Vatta M, Pinamonti B, Muntoni F, Caforio AL, McKenna WJ, Falaschi A, Giacca M, Camerini.

Journal. J Am Coll Cardiol 1999;34:181-190.

PMID: 10400009

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Title. Hereditary dilated cardiomyopathy. 

Authors. McMinn T and Ross J, Jr. 

Journal. Clin Cardiol, 1995;18:7-15.

Department of Medicine, University of California, San Diego, La Jolla 92093.

PMID: 7704989

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