Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäre Kardiomyopathie

Die hereditäre Kardiomyopathie ist eine Gruppen genetisch bedingter Herzmuskelerkrankungen.

Gliederung

Hereditäre Herzerkrankungen
Arteriosklerose
Hereditäre Arrhythmie
Hereditäre Kardiomyopathie
Dilatative Kardiomyopathie 1A
LMNA
Malouf-Syndrom
LMNA

Referenzen:

1.

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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2.

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

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3.

BARRY M et. al. (1962) Familial cardiomyopathy.

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4.

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

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5.

BIOERCK G et. al. (1964) FAMILIAL CARDIOMYOPATHIES.

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6.

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

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7.

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

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8.

None (1949) Familial cardiomegaly.

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9.

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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10.

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

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11.

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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12.

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

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13.

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

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14.

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

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15.

None (1995) Desmin-related neuromuscular disorders.

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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.

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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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30.

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

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31.

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

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32.

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

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33.

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

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34.

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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35.

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

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36.

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

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37.

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

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38.

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.

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39.

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

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40.

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

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41.

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

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42.

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

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43.

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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