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注意：仅列出部分参考文献，下载原文获取全部文献信息。DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
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The mutational constraint spectrum quantified from variation in 141,456 humans
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2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy
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Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy
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Desmoplakin Variant-Associated Arrhythmogenic Cardiomyopathy Presenting as Acute Myocarditis
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Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome
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HUMAN MOLECULAR GENETICS (2016)
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases
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Cardiac T1 Mapping and Extracellular Volume (ECV) in clinical practice: a comprehensive review
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Desmoplakin Mutations with Palmoplantar Keratoderma; Woolly Hair and Cardiomyopathy
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Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy
Oyediran Akinrinade et al.
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Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
Aditya Bhonsale et al.
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Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin
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Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype
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Genetics of arrhythmogenic right ventricular cardiomyopathy
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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
Liat Samuelov et al.
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Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies
Matthias Grothoff et al.
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Pathophysiology of arrhythmogenic cardiomyopathy
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Diagnostic and prognostic value of cardiovascular magnetic resonance in non-ischaemic cardiomyopathies
Chirine Parsai et al.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE (2012)
Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart
M. C. Bolling et al.
BRITISH JOURNAL OF DERMATOLOGY (2010)
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Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
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Left ventricular non-compaction - Insights from cardiovascular magnetic resonance imaging
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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2005)
Normal human left and right ventricular dimensions for MRI as assessed by turbo gradient echo and steady-state free precession imaging sequences
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JOURNAL OF MAGNETIC RESONANCE IMAGING (2003)
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
A Rampazzo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
NV Whittock et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2002)
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
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