Frameshift mutation of LAMP2:c.667delT in a 17-year-old male with hypertrophic cardiomyopathy and dyslexia: a novel pathogenic variant for Danon disease.

Huzairi SaniLay Kek TehMohd Nur Fakhruzzaman NoorizhabNorzuliana Zainal AbidinUmi Nabila Mat YusufNada Syazana ZulkufliSazzli KasimMohamad Zaki Salleh

Published in: Singapore medical journal (2024)

Keyphrases

hypertrophic cardiomyopathy
left ventricular
loop mediated isothermal amplification
heart failure
quantum dots
sensitive detection