A previously unreported frameshift ATP2C1 mutation in a generalized Hailey-Hailey disease

J Eur Acad Dermatol Venereol. 2020 Mar;34(3):e118-e120. doi: 10.1111/jdv.16038. Epub 2019 Dec 5.

Authors

S Leducq^#¹, S Duchatelet^#², J Zaragoza³, S Ventéjou¹, A de Muret⁴, S Eymieux^{4

5}, E Blanchard^{4

5}, L Machet¹, A Hovnanian², T Kervarrec⁴

Affiliations

¹ Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), CHRU Tours, Tours, France.
² INSERM UMR 1163, Imagine Institute, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.
³ Department of Dermatology, CHR Orléans, Orléans, France.
⁴ Department of Pathology, CHRU Tours, Tours, France.
⁵ IBiSA Electron Microscopy platform, CHRU Tours, Tours, France.

^# Contributed equally.

PMID: 31660662
DOI: 10.1111/jdv.16038

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Aged
Aged, 80 and over
Calcium-Transporting ATPases / genetics*
Frameshift Mutation*
Humans
Male
Pemphigus, Benign Familial / genetics*
Pemphigus, Benign Familial / pathology

Substances

ATP2C1 protein, human
Calcium-Transporting ATPases