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104
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Congenital heart anomalies
- ... of myotonic dystrophy type 1: the mild and congenital types. Mild myotonic dystrophy is apparent in mid ... Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. Characteristic ...
- ... a condition called primary aldosteronism, seizures, and neurological abnormalities (PASNA). As in aldosterone-producing adenomas, the increased ... and in the cluster of cells in the heart that acts as the heart's natural pacemaker ( ...
- ... fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess ... less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis. Blood. 2005 Dec 15;106(13): ...
- ... fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess ... Hirono A, Miwa S. Hematologically important mutations: molecular abnormalities of glucose phosphate isomerase deficiency. Blood Cells Mol ...