Hypertrophic Cardiomyopathy with Mitochondrial Myopathy: A New Phenotype of Complex II Defect

Two brothers, 25 and 19 years old, were affected by asymmetrical hypertrophic cardiomyopathy. The older brother had waddling gait and weakness of the proximal girdle muscles, while the younger had a broad-based gait and weakness of selected limb girdle muscles. EMG exam was myopathic. Serum enzyme,...

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Veröffentlicht in:	Japanese Heart Journal 1993, Vol.34(1), pp.63-77
Hauptverfasser:	ANGELINI, Corrado, MELACINI, P., VALENTE, M.L., REICHMANN, H., CARROZZO, R., FANIN, M., VERGANI, L., BOFFA, G.M., MARTINUZZI, A., FASOLI, G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Biopsy Cardiomyopathy, Hypertrophic - diagnosis Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - pathology Complex II Echocardiography Electrocardiography Electron Transport Complex II Errors of metabolism Humans Hypertrophic cardiomyopathy Male Medical sciences Metabolic diseases Microscopy, Electron Miscellaneous hereditary metabolic disorders Mitochondria Mitochondria, Heart - pathology Multienzyme Complexes - genetics Multienzyme Complexes - physiology Muscles - pathology Oxidoreductases - genetics Oxidoreductases - physiology Pedigree Phenotype Succinate Dehydrogenase - genetics Succinate Dehydrogenase - physiology
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