Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Dilated cardiomyopathy 1A

Dilated cardiomyopathy 1A is an autosomal dominant disorder caused by mutations of the LMNA gene. The disease is characterized by progressive cardiac failure , conduction disturbances and is a frequent cause of transplantation.

Systematic

Hereditary cardiomyopathy
Dilated cardiomyopathy 1A
LMNA
Malouf syndrome

References:

1.

Fatkin D et. al. (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

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2.

Brodsky GL et. al. (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

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3.

Taylor MR et. al. (2003) Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

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4.

Charniot JC et. al. (2003) Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.

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5.

Sébillon P et. al. (2003) Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

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6.

Mounkes LC et. al. (2005) Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

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7.

Meune C et. al. (2006) Primary prevention of sudden death in patients with lamin A/C gene mutations.

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8.

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9.

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10.

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11.

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12.

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13.

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14.

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15.

MacLennan BA et. al. (1987) Familial idiopathic congestive cardiomyopathy in three generations: a family study with eight affected members.

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16.

Graber HL et. al. (1986) Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected.

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18.

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19.

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Rywlin AM et. al. (1969) Idiopathic familial cardiopathy. A study of two families.

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21.

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22.

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23.

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24.

Csanády M et. al. (1995) Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms.

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25.

Kass S et. al. (1994) A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.

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26.

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27.

Olson TM et. al. (1996) Mapping a cardiomyopathy locus to chromosome 3p22-p25.

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28.

Olson TM et. al. (1995) Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy.

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29.

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30.

Graham RM et. al. (1999) Pathogenesis of inherited forms of dilated cardiomyopathy.

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32.

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36.

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37.

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38.

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39.

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40.

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41.

Gupta P et. al. (2010) Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.

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42.

Levitas A et. al. (2010) Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

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43.

None (2011) Contribution of acquired factors to the pathogenesis of dilated cardiomyopathy. -The cause of dilated cardiomyopathy: genetic or acquired? (Acquired-Side)-.

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Update: Sept. 26, 2018