Associated Papers
Desmoplakin cardiomyopathy: recent updates in natural history and management.
Hoffman-Andrews L et al.
Current Opinion in Cardiology, 2025
Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death.
Azimi A et al.
Bmc Medical Genomics, 2023
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET et al.
Circulation. Genomic and Precision Medicine, 2023
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Karvonen V et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.
Yuan ZY et al.
Chinese Medical Journal, 2021
Left Ventricular Dysfunction in Arrhythmogenic Cardiomyopathy: Association With Exercise Exposure, Genetic Basis, and Prognosis.
Lie ØH et al.
Journal of the American Heart Association, 2021
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.
Sato T et al.
Internal Medicine (tokyo, Japan), 2021
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
Heliö K et al.
Bmc Medical Genetics, 2020
Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.
Bari O et al.
Pediatric Dermatology, 2018
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).
Finsterer J et al.
Molecular Genetics and Metabolism Reports, 2016
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
Akinrinade O et al.
European Heart Journal, 2015
A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.
Vahlquist A et al.
Clinical and Experimental Dermatology, 2014
How do keratinizing disorders and blistering disorders overlap?
Hamada T et al.
Experimental Dermatology, 2013
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2011
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
Al-Owain M et al.
Clinical Genetics, 2011
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
Mahoney MG et al.
The Journal of Investigative Dermatology, 2010
[Genetic testing in cardiologic diagnostics].
Heliö T et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2010