Article
Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect.
Japanese heart journal - 1 Jan 1993
Angelini C, Melacini P, Valente M L, Reichmann H, Carrozzo R, Fanin M, Vergani L, Boffa G M, Martinuzzi A, Fasoli G
Abstract excerpt
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, CPK and aldolase were elevated. Histochemical reactions in muscle revealed "core-like" areas, subsarcolemmal rims of...
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