Erbliche Herzerkrankungen

Abe K et al. (1993) Dominantly inherited cytoplasmic body myopathy in a Japanese kindred.

Melberg A et al. (1999) Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

Saavedra-Matiz CA et al. () Linkage of hereditary distal myopathy with desmin accumulation to 2q.

Sjöberg G et al. (1999) A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

Muñoz-Mármol AM et al. (1998) A dysfunctional desmin mutation in a patient with severe generalized myopathy.

Goldfarb LG et al. (1998) Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

Barohn RJ et al. (1998) Overview of distal myopathies: from the clinical to the molecular.

Messina DN et al. (1997) Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

Vajsar J et al. (1993) Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.

Park KY et al. (2000) Desmin splice variants causing cardiac and skeletal myopathy.

Horowitz SH et al. (1994) Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship.

Ariza A et al. (1995) Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle.

None (1995) Desmin-related neuromuscular disorders.

Porte A et al. (1980) Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells.

Edström L et al. (1980) A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments.

Chapon F et al. (1989) [Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].

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.

Hedberg C et al. (2012) Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

Greenberg SA et al. (2012) Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.

van Spaendonck-Zwarts KY et al. (2011) Desmin-related myopathy.

Otten E et al. (2010) Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.

van Tintelen JP et al. (2009) Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

Piñol-Ripoll G et al. (2009) Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.

Kuhl A et al. (2008) Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

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.

Bär H et al. (2007) Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

Shelton GD et al. (2004) Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog.

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.

Bushby KM et al. (2003) The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002.

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

Johnson JN et al. (2008) Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

Imboden M et al. (2006) Female predominance and transmission distortion in the long-QT syndrome.

Napolitano C et al. (2005) Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Priori SG et al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III.

Priori SG et al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II.

Ackerman MJ et al. (1998) A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.

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.

GAMSTORP I et al. (1964) CONGENITAL CARDIAC ARRHYTHMIA.

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

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

Kimbrough J et al. (2001) Clinical implications for affected parents and siblings of probands with long-QT syndrome.

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.

OMIM.ORG article