Bertini E, Bosman C, Salviati G, Boldrini R, Servidei S, Ricci E, Del Nonno F, Gagliardi MG, Bevilacqua M
Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments. [Case Reports, Journal Article]
Virchows Arch A Pathol Anat Histopathol 1993; 422(4):327-31.
We present a undescribed condition in a girl who died at 8 years of hypertrophic cardiomyopathy. Muscle and endomyocardial biopsies disclosed a selective loss of thick filaments ultrastructurally. In muscle biopsy histochemical abnormalities of myofibrillar AT-Pase were confined to type 1 fibres. Gel electrophoresis of muscle homogenate showed no qualitative abnormalities of slow and fast myosin heavy chains (MHC) and light chains, and the amount of the different myosin isozymes was in agreement with histochemical myofibrillar ATPase findings. The pathogenetic mechanisms have not been elucidated in this case but we suspect an abnormality of the beta-cardiac MHC gene, the only gene expressed in the heart and in type 1 skeletal muscle fibres.
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