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Dilated Cardiomyopathy 1A

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Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cardiac fibrosis circulatory 100 % 10580070 2014-01-28
Cardiomyopathy circulatory 100 % 10580070 2014-01-28
Cardiac arrhythmia circulatory 87 % 10580070 2014-01-28
Cardiac conduction defect circulatory 87 % 10580070 2014-01-28
Dilated cardiomyopathy circulatory 64 % 10580070 2014-01-28
Atrial fibrillation circulatory 59 % 10580070 2014-01-28
Pacemakers implanted circulatory 54 % 10580070 2014-01-28
Heart failure circulatory 33 % 10580070 2014-01-28
Sudden death circulatory 28 % 10580070 2014-01-28
Increased blood CK circulatory 8 % 10580070 2014-01-28

List of references:

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
D Fatkin, C MacRae, T Sasaki, M R Wolff, M Porcu, M Frenneaux, J Atherton, H J Vidaillet, S Spudich, U De Girolami, J G Seidman, C Seidman, F Muntoni, G M├╝ehle, W Johnson, B McDonough,

Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood.

The New England journal of medicine - Dec 1999

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