A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation

Circ J. 2024 Mar 25;88(4):612. doi: 10.1253/circj.CJ-23-0938. Epub 2024 Jan 20.

Authors

Affiliations

¹ Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo.
² Department of Cardiovascular Surgery, Graduate School of Medicine, The University of Tokyo.
³ International University of Health and Welfare.

PMID: 38246647
DOI: 10.1253/circj.CJ-23-0938

No abstract available

MeSH terms

Glycogen Storage Disease Type IIb* / genetics
Glycogen Storage Disease Type IIb* / pathology
Heart Transplantation*
Humans
Lysosomal-Associated Membrane Protein 2 / genetics
Mutation

Substances

LAMP2 protein, human
Lysosomal-Associated Membrane Protein 2