Article
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
European journal of pediatrics - 1 Jul 2008
Van Hove Johan L K, Freehauf Cynthia, Miyamoto Shelley, Vladutiu Georgirene D, Pancrudo Jacklyn, Bonilla Eduardo, Lovell Mark A, Mierau Gary W, Thomas Janet A, Shanske Sara
Abstract excerpt
A 6-week-old child presented with hypotonia, myopathy, and a rapidly worsening dilated cardiomyopathy with severe atrial and ventricular arrhythmias and pulmonary hypertension, which proved fatal at age 3 months. Biochemical analysis showed a combined deficiency of the enzymatic activities of complexes I and IV and molecular studies identified a T14709C mutation in the mitochondrial tRNA glutamic acid gene. A...
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