Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).
Sign Up to like & getrecommendations! Published in 2017 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2017.06.031
Abstract: INTRODUCTION Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. METHODS We… read more here.
Keywords: malignant cardiac; danon disease; cardiac phenotypic; phenotypic expression ... See more keywords
DESCRIPTION OF LEFT VENTRICULAR STRAIN IN DANON DISEASE: INSIGHTS FROM A GLOBAL REGISTRY
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(20)31553-9
Abstract: Danon Disease (DD) is a rare X-linked disorder due to mutations in the Lysosomal Associated Membrane Protein 2 (LAMP-2) gene and causes severe cardiac manifestations. Longitudinal strain (LS) has emerged as a diagnostic and prognostic… read more here.
Keywords: danon disease; description left; danon; strain ... See more keywords
Possible contamination of expressed breast milk by SARS‐CoV‐2
Sign Up to like & getrecommendations! Published in 2021 at "Pediatrics International"
DOI: 10.1111/ped.14607
Abstract: 1 Nishino I, Fu J, Tanji K et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000; 406: 906–10. 2 D’souza RS, Levandowski C, Slavov D et al. Danon disease:… read more here.
Keywords: contamination expressed; danon disease; expressed breast; danon ... See more keywords
New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.
Sign Up to like & getrecommendations! Published in 2022 at "Folia medica"
DOI: 10.3897/folmed.64.e66292
Abstract: Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (LAMP2). Three main clinical features of this pathology are cardiomyopathy, skeletal… read more here.
Keywords: danon disease; danon; new deletion; deletion lamp2 ... See more keywords