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

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概要

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• 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 mitochondria and lipid accumulation. Succinatedehydrogenase stain showed a lack of activity in both biopsies, with the exception of intrafusal fibers. Microphotometric quantitative measurements confirmed the defect in both biopsies. Biochemical measurements of several mitochondrial enzymes in muscle showed a reduced activity of succinate-dehydrogenase (33%) and succinate-cytochrome C reductase (36-47%) which are both components of complex II. On myocardial biopsy lipid and mitochondrial abnormalities were found. This mitochondriopathy represents a new phenotype of partial complex II defect.

• International Heart Journal刊行会の論文

著者

• ANGELINI Corrado

  Neuromuscular Center, Neurological Clinic

• MELACINI P.

  Department of Cardiology

• VALENTE M.L.

  Institute of Pathology, University of Padova

• REICHMANN H.

  Neurologische Universitatsklinik

• CARROZZO R.

  Neuromuscular Center, Neurological Clinic

• FANIN M.

  Neuromuscular Center, Neurological Clinic

• VERGANI L.

  Neuromuscular Center, Neurological Clinic

• BOFFA G.M.

  Department of Cardiology

• MARTINUZZI A.

  Neuromuscular Center, Neurological Clinic

• FASOLI G.

  Department of Cardiology

関連論文

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

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