Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).
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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
Cardiac phenotypic spectrum of KCNT1 mutations
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DOI: 10.1017/s1047951120002735
Abstract: Abstract We report a 10-month-old girl with KCNT1 (c1420C > T; p. Arg474Cys, R474C) mutation-associated epileptic encephalopathy, systemic-to-pulmonary artery “collateralopathy”, and intermittent QTc prolongation. Spontaneous regression of systemic-to-pulmonary artery collateral-mediated left heart dilation was noted… read more here.
Keywords: phenotypic; cardiac phenotypic; kcnt1 mutations; spectrum kcnt1 ... See more keywords