Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia

Zwi H. Hart, Chung Ho Chang, Eugene V.D. Perrin, Joseph S. Neerunjun, Ram Ayyar

Research output: Contribution to journalArticlepeer-review

64 Scopus citations

Abstract

A description is given of a case in a 16 yr old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate and pyruvate levels in the blood and cerebrospinal fluid. His sister died at 18 yr of age of a similar condition. The additional finding of a low oxygen consumption suggests a defect of oxidative pathways as the underlying of the of disease process.

Original languageEnglish (US)
Pages (from-to)180-185
Number of pages6
JournalArchives of neurology
Volume34
Issue number3
DOIs
StatePublished - Mar 1977
Externally publishedYes

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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