Novel founder mutation in French-Canadian families with Naxos disease

Clin Genet. 2017 Oct;92(4):451-453. doi: 10.1111/cge.12971. Epub 2017 Feb 22.

Authors

T Cruz Marino¹, B Maranda², J Leblanc¹, A Pratte¹, M Barabas³, A Dupéré⁴, S Lévesque²

Affiliations

¹ Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, Canada.
² Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke and Université de Sherbrooke, Sherbrooke, Quebec, Canada.
³ Department of Cardiology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, Canada.
⁴ Department of Dermatology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, Canada.

PMID: 28098346
DOI: 10.1111/cge.12971

No abstract available

Keywords: ARVC; JUP; Naxos disease; arrhythmogenic cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy.

Publication types

Letter

MeSH terms

Adult
Arrhythmogenic Right Ventricular Dysplasia / genetics*
Arrhythmogenic Right Ventricular Dysplasia / physiopathology
Canada
Female
Hair Diseases / genetics*
Hair Diseases / physiopathology
Humans
Keratoderma, Palmoplantar / genetics*
Keratoderma, Palmoplantar / physiopathology
Male
Mutation
gamma Catenin / genetics

Substances

JUP protein, human
gamma Catenin

Supplementary concepts

Naxos disease