Hereditary cardiac disease

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None (1995) Desmin-related neuromuscular disorders.

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None (1993) Response.

Pica EC et al. (2008) Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

Brodehl A et al. (2013) The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

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

Bergman JE et al. () Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

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Ferreiro A et al. (2004) Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Selcen D et al. (2004) Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

Kaminska A et al. (2004) Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

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Westenskow P et al. (2004) Compound mutations: a common cause of severe long-QT syndrome.

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Millat G et al. (2006) Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Tester DJ et al. (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

None (1965) CONGENITAL CARDIAC ARRHYTHMIA.

Yang P et al. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

Splawski I et al. (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Jongbloed RJ et al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

Berthet M et al. (1999) C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

Priori SG et al. (1999) Low penetrance in the long-QT syndrome: clinical impact.

Zareba W et al. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

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

BARRY M et al. (1962) Familial cardiomyopathy.

Gouas L et al. (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

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Priori SG et al. (2003) Risk stratification in the long-QT syndrome.

None (2003) The long-QT syndrome--bedside to bench to bedside.

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Miller MD et al. (2001) Diagnostic accuracy of screening electrocardiograms in long QT syndrome I.

Itoh T et al. (2001) Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.

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

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

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.

None (1949) Familial cardiomegaly.

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

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

BIOERCK G et al. (1964) FAMILIAL CARDIOMYOPATHIES.

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

Arbour L et al. (2008) A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

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