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Dilated cardiomyopathy 1S
- ... glycogen synthesis. PLoS Med. 2008 Jan 29;5(1):e25. doi: ... E. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease ...
- ... condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called ... and typically survive into mid-adulthood without treatment. Cardiomyopathy is the most common symptom of Danon disease, ...
- ... characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), ... in males.In males with Barth syndrome, dilated cardiomyopathy is often present at birth or develops within ...
- ... National Organization for Rare Disorders (NORD) GELEOPHYSIC DYSPLASIA 1; GPHYSD1 GELEOPHYSIC DYSPLASIA 2; GPHYSD2 PubMed Giray O, ... Am J Med Genet. 1996 May 3;63(1):50-4. doi: 10.1002/(SICI)1096-8628( ...
- ... serious heart problems, such as a weakened heart (cardiomyopathy) and heart failure; breathing difficulties; coma; and sudden ... estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this ...
- ... hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). Individuals with type I usually do not survive ... III. GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 newborns. Type ...
- ... CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; ... adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy. DOLK- ...
- ... for Rare Disorders (NORD) ClinicalTrials.gov ... myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95( ...
- ... respiratory failure, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heartbeat (arrhythmia). In many cases, ... recurring episodes of hypoketotic hypoglycemia, seizures, liver dysfunction, cardiomyopathy, arrhythmia, and muscle weakness (myopathy) in the arms ...
- ... have heart defects, about 80 percent have hypertrophic cardiomyopathy, which is a thickening of the heart muscle ... to work harder to pump blood. The hypertrophic cardiomyopathy most often affects the lower left chamber of ...