Hypertrophic cardiomyopathy with mitochondrial myopathy - A new phenotype of complex II defect

C. Angelini, P. Melacini, M. L. Valente, H. Reichmann, R. Carrozzo, M. Fanin, L. Vergani, G. M. Boffa, A. Martinuzzi, G. Fasoli

Research output: Contribution to journalArticlepeer-review


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. Succinate-dehydrogenase 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.

Original languageEnglish
Pages (from-to)63-77
Number of pages15
JournalJapanese Heart Journal
Issue number1
Publication statusPublished - 1993


  • Complex II
  • Hypertrophic cardiomyopathy
  • Mitochondria

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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