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Clinical and molecular characterization of seven patients with Danon disease
Exp Ther Med. 2021 Apr;21(4):395. doi: 10.3892/etm.2021.9826. Epub 2021 Feb 24.ABSTRACTDanon disease is an X-linked glycogen storage disease characterized by skeletal myopathy, cardiomyopathy and intellectual impairment. It is caused by a loss-of-function mutation in the lysosome-associated membrane protein-2 (LAMP2) gene. In the present study, exon and boarding intron analysis of 96 cardio disease-associated genes was performed in 770 patients with hypertrophic cardiomyopathy (HCM) using second-generation sequencing. Next, the identified mutations were confirmed in family members of the patients and 300 healthy controls. ...
Source: Experimental and Therapeutic Medicine - March 8, 2021 Category: General Medicine Authors: Xuan-Ying Wang Bo Wang Xiao-Li Zhu Zhi-Ling Ma Ying Liu Chang-Hui Lei Qian-Li Yang Dan Hu Xue-Li Zhao Zhi-Rong Liu Li-Wen Liu Source Type: research

Danon disease: Two patients with atrial fibrillation in a single family and review of the literature.
Authors: Guo S, Zhou L, Wang R, Lv Z, Xu H, Han B, Korantzopoulos P, Hu F, Liu T Abstract The present study reports on a family with two members affected by Danon disease but having different phenotypes. The clinical manifestations of Danon disease include cardiomyopathy, skeletal myopathy and different degrees of intellectual disability that varies greatly among patients. The present case study reports on two siblings, an older sister and a younger brother, with Danon disease from an affected pedigree, presenting with distinctly different phenotypes. The sister was diagnosed with dilated cardiomyopathy at the age ...
Source: Experimental and Therapeutic Medicine - August 16, 2019 Category: General Medicine Tags: Exp Ther Med Source Type: research

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
ConclusionsTruncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.
Source: Journal of the American College of Cardiology - November 29, 2016 Category: Cardiology Source Type: research

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy
Background: Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography have revealed cardiac abnormalities ranging from conduction abnormalities and arrhythmias to hypertrophic or dilated cardiomyopathy in these patients. Recently, characteristic patterns of cardiac involvement were documented by cardiovascular magnetic resonance (CMR) in patients with c hronic p ...
Source: Journal of Cardiovascular Magnetic Resonance - May 22, 2015 Category: Radiology Authors: Anca FlorianAnna LudwigBianca Stubbe-DrägerMatthias BoentertPeter YoungJohannes WaltenbergerSabine RöschUdo SechtemAli Yilmaz Source Type: research