WebNov 5, 2015 · This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan … WebMar 29, 2024 · This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] Associated conditions See all available tests in GTR for this gene Genomic context Location: 1q43 Sequence:
Genetic testing for hypertrophic cardiomyopathy - Blueprint …
WebMar 21, 2024 · This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. WebMar 21, 2024 · It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. martini low profile lounge chair
Inherited Cardiomyopathies NEJM
WebDec 22, 2024 · 2024 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines Circulation. 2024 Dec 22;142 (25):e533-e557. doi: 10.1161/CIR.0000000000000938. … WebJul 27, 2007 · These commonly accompany advanced cardiomyopathy and heart failure. Some genetic causes (e.g., pathogenic variants in DES, … WebSep 7, 2024 · Our understanding of the epidemiology of hypertrophic cardiomyopathy (HCM) is incomplete because of the difficulty of incorporating incomplete disease … martin immobilier ste foy les lyon