Structural and molecular pathology of the heart in Carvajal syndrome (Q75410407)

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18 November 2019

title

Structural and molecular pathology of the heart in Carvajal syndrome (English)

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18 November 2019

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5

Gaetano Thiene

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18 November 2019

author name string

Starr R Kaplan

1

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18 November 2019

Joseph J Gard

2

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18 November 2019

Luis Carvajal-Huerta

3

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18 November 2019

Juan C Ruiz-Cabezas

4

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18 November 2019

Jeffrey E Saffitz

6

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18 November 2019

publication date

1 January 2004

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18 November 2019

published in

Cardiovascular Pathology

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18 November 2019

volume

13

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18 November 2019

issue

1

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18 November 2019

page(s)

26-32

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Cardiac abnormalities in familial palmoplantar keratosis

18 November 2019

cites work

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Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy

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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

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Defining the interactions between intermediate filaments and desmosomes

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[Dilated cardiomyopathy in the ectodermal dysplasia. Electro-echocardiographic observations in palmo-plantar keratoderma with woolly hair]

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Right ventricular dysplasia: a report of 24 adult cases

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Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin

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Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy

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A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

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Evidence for extensive locus heterogeneity in Naxos disease

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

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7 January 2021

Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin

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7 January 2021

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

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7 January 2021

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

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7 January 2021

Restrictive Cardiomyopathy, Atrioventricular Block and Mild to Subclinical Myopathy in Patients With Desmin-Immunoreactive Material Deposits

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A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

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7 January 2021

10.1016/S1054-8807(03)00107-8

Identifiers

DOI

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18 November 2019

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