Hereditäre Kardiomyopathie

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

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

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.

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

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

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

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

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

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

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

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

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.

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

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

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

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.

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

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

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

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

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

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

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

BARRY M et al. (1962) Familial cardiomyopathy.

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

BIOERCK G et al. (1964) FAMILIAL CARDIOMYOPATHIES.

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

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

None (1949) Familial cardiomegaly.

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.

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

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

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

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

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

None (1995) Desmin-related neuromuscular disorders.

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

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

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

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

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

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