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Syndrome associated with dilated cardiomyopathy
- Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting ...
- ... the lungs (pulmonary valve stenosis). Some have hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle.A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or ...
- Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal ...
- ... Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most ... syndrome is also characterized by distinctive facial ...
- ... an identified mutation in any of the known associated genes. The cause of the ... occur as part of syndromes that affect other organs and tissues in the ...
- Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although ...
- ... Marks ML, Trippel DL, Keating MT. Long QT syndrome associated with syndactyly identified in females. Am J Cardiol. ... Keating M. A new form of long QT syndrome associated with syndactyly. J Am Coll Cardiol. 1995 Jan; ...
- ... of inheritance applies to most of the Leigh syndrome-associated genes contained in nuclear DNA, including SURF1. The ... Testing Registry: Leigh Syndrome (nuclear DNA mutation) Leigh syndrome Mitochondrial DNA-associated Leigh syndrome National Organization for Rare Disorders (NORD) ...
- ... ZY. Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. Biochemistry. 2014 Jul 1;53(25):4136-51. doi: 10.1021/bi5002695. Epub 2014 Jun 17. Citation on PubMed or Free article on PubMed Central
- ... Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation. 2011 Aug 23;124(8):876-85. doi: 10.1161/CIRCULATIONAHA.110.005405. Epub 2011 Aug 1. Citation on PubMed or Free article on ... clinical challenges in a changing disease spectrum. Trends ...