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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.

SCHRADER WH et al. (1961) Familial idiopathic cardiomegaly.

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2.

O'Connell JB et al. (1984) Clinical and pathologic findings of myocarditis in two families with dilated cardiomyopathy.

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3.

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

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4.

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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5.

Michels VV et al. (1993) Dystrophin analysis in idiopathic dilated cardiomyopathy.

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6.

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

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7.

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

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8.

McKenna CJ et al. (1997) Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution.

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9.

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

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10.

Seidman JG et al. (2001) The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.

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11.

BATTERSBY EJ et al. (1961) Familial cardiomyopathy.

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12.

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

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13.

None (1961) Familial cardiomyopathy.

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14.

BARRY M et al. (1962) Familial cardiomyopathy.

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15.

BISHOP JM et al. (1962) Cardiomyopathy in four members of a family.

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16.

BIOERCK G et al. (1964) FAMILIAL CARDIOMYOPATHIES.

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17.

BOYD DL et al. (1965) THREE FAMILIES WITH FAMILIAL CARDIOMYOPATHY.

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18.

Elliott JF et al. (2003) Autoimmune cardiomyopathy and heart block develop spontaneously in HLA-DQ8 transgenic IAbeta knockout NOD mice.

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19.

None (1949) Familial cardiomegaly.

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20.

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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21.

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

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22.

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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23.

Kariv I et al. (1966) A family with cardiomyopathy.

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24.

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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25.

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

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26.

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

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27.

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

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28.

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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29.

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

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30.

Møller P et al. (1979) Familial cardiomyopathy. Autosomally, dominantly inherited congestive cardiomyopathy with two cases of septal hypertrophy in one family.

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31.

Michels VV et al. (1992) The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.

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32.

Coughlin SS et al. (1990) The epidemiology of idiopathic dilated cardiomyopathy in a biracial community.

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33.

Schmidt MA et al. (1988) Familial dilated cardiomyopathy.

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34.

Vincenzo Fragola P et al. (1988) Familial idiopathic dilated cardiomyopathy.

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35.

Koike S et al. (1987) Familial dilated cardiomyopathy and human leucocyte antigen. A report of two family cases.

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36.

Gardner RJ et al. (1987) Dominantly inherited dilated cardiomyopathy.

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37.

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

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38.

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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39.

Emanuel R et al. (1971) Dominant and recessive modes of inheritance in idiopathic cardiomyopathy.

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40.

None (1970) Congestive and hypertrophic cardiomyopathies. A decade of study.

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41.

Machida K et al. (1971) Familial cardiomyopathy: immunological studies and review of literatures on autopsied cases in Japan.

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42.

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

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43.

Ozick H et al. (1984) Dilated cardiomyopathy in identical twins.

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44.

OMIM.ORG article

Omim 115200 external link
Update: Aug. 14, 2020
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