Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Br J Dermatol. 2018 Nov;179(5):1181-1183. doi: 10.1111/bjd.16797. Epub 2018 Aug 14.

Authors

Affiliations

¹ Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.
² Department of Genetics, Groningen, The Netherlands.
³ Department of Pathology, Groningen, The Netherlands.
⁴ Department of Cardiology, Groningen, The Netherlands.

PMID: 29779254
DOI: 10.1111/bjd.16797

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Adult
Cardiomyopathy, Dilated / complications
Cardiomyopathy, Dilated / genetics*
Cardiomyopathy, Dilated / surgery
Cell Membrane / metabolism
Cells, Cultured
DNA Mutational Analysis
Epidermolysis Bullosa Simplex / complications
Epidermolysis Bullosa Simplex / genetics*
Epidermolysis Bullosa Simplex / pathology
Exome Sequencing
Heart Transplantation
Humans
Keratinocytes / cytology
Keratinocytes / metabolism
Keratinocytes / ultrastructure
Male
Microscopy, Electron
Mutation
Myocytes, Cardiac / cytology
Myocytes, Cardiac / metabolism
Repressor Proteins / genetics*
Repressor Proteins / metabolism
Skin / cytology
Skin / pathology

Substances

KLHL24 protein, human
Repressor Proteins