A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy-Reference-Cited by-同舟云学术

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

Published:2017-12-23 Issue:2 Volume:6 Page:288-293
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Schirmer Ilona¹,Dieding Mareike²,Klauke Bärbel¹,Brodehl Andreas¹^ORCID,Gaertner-Rommel Anna¹,Walhorn Volker²,Gummert Jan¹,Schulz Uwe¹,Paluszkiewicz Lech¹,Anselmetti Dario²,Milting Hendrik¹

Affiliation:

1. Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI); Heart and Diabetes Centre NRW; University Hospital of the Ruhr-University Bochum; Bad Oeynhausen Germany

2. Faculty of Physics, Experimental Biophysics and Applied Nanoscience; Bielefeld Institute for Nanoscience (BINAS); Bielefeld University; Bielefeld Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference24 articles.

1. Desmin, desminopathy and the complexity of genetics;Azzimato;Journal of Molecular and Cellular Cardiology,2016

2. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease;Brenner;Nature Genetics,2001

3. Functional characterization of the novel DES mutation p. L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect;Brodehl;Journal of Molecular and Cellular Cardiology,2016

4. Mutations in FLNC are associated with familial restrictive cardiomyopathy;Brodehl;Human Mutation,2016

5. The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy;Brodehl;Human Mutation,2017

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