Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency

C. Doriguzzi, L. Palmucci, T. Mongini, N. Bresolin, L. Bet, G. Comi, R. Lala

Research output: Contribution to journalArticle

Abstract

A 19-year-old man born with thyroprivic hypothyroidism, due to congenital development defect, manifested hypogonadism, stunted growth, chronic progressive external ophthalmoplegia (CPEO), diffuse muscle weakness and wasting, right bundle branch block, cerebral atrophy. Muscle biopsy showed mitochondrial abnormalities. Biochemical investigations on muscle disclosed partial (50%) cytochrome c oxidase deficiency, 58% decrease of cytochrome aa3 and 41% decrease of cytochrome b. Enzyme-linked immunosorbent assay showed decrease of the immunologically active enzyme protein.

Original languageEnglish
Pages (from-to)122-125
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume52
Issue number1
Publication statusPublished - 1989

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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