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Genes, Vol. 14, Pages 1539: Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation & mdash;Case Report and Review of the Literature
This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf–Parkinson–White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone–rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnorma...
Source: Genes - July 27, 2023 Category: Genetics & Stem Cells Authors: Adel Shalata Marina Bar-Shai Yarin Hadid Muhammad Mahroum Hila Mintz Zaher Eldin Shalata Evgeny Radzishevsky Jacob Genizi Avraham Lorber Tamar Ben-Yosef Liat Yaniv Tags: Article Source Type: research

Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death
Conclusion and relevanceThe present study showed varied heart morphology in young adults with DM1 and sudden death. Synergistic effects of various genetic factors other than CTG repeats may increase the risk of sudden cardiac death in DM1 patients, even if signs of cardiac and skeletal muscle involvement are mild. Comprehensive genetic investigations, other than CTG repeat assessment, may be useful to estimate the risk of sudden cardiac death in DM1 patients.
Source: Journal of Neurology - July 11, 2023 Category: Neurology 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

Genome-wide Association Study of Susceptibility to Particulate Matter –Associated QT Prolongation
Conclusions: The findings suggest that biologically plausible genetic factors may alter susceptibility to PM10-associated QT prolongation in populations protected by the U.S. Environmental Protection Agency’s National Ambient Air Quality Standards. Independent replication and functional characterization are necessary to validate our findings. https://doi.org/10.1289/EHP347 Received: 11 April 2016 Revised: 07 September 2016 Accepted: 19 September 2016 Published: 08 June 2017 Address correspondence to R. Gondalia, Department of Epidemiology, University of North Carolina, 137 E. Franklin St., Chapel Hill, NC 27514. Te...
Source: EHP Research - June 8, 2017 Category: Environmental Health Authors: Daniil Lyalko Tags: Research Source Type: research

Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report
Conclusion Given emerging evidence that mitochondrial dysfunction, particularly in the electron transport chain needed for cellular energy production, is an underlying pathophysiological mechanism for some varieties of ASD, clinicians should have a high index of suspicion for mitochondrial disease, especially when they encounter a patient with unusual neurological or constitutional symptoms. The prevalence of mitochondrial disease in ASD patients may be as high as five percent, which means that it is not the “zebra”[27] diagnosis that it might be in a non-ASD patient, where prevalence is about 0.01 percent.10 Reference...
Source: Innovations in Clinical Neuroscience - October 9, 2015 Category: Neuroscience Authors: ICN Online Editor Tags: Anxiety Disorders Asperger's syndrome Autism Behavioral and Cognitive Neurology Case Report Current Issue Intellectual Disability Neurologic Systems and Symptoms Pervasive Developmental Disorders ASD autism spectrum disorder dysauton Source Type: research