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 language | English (US) |
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Pages (from-to) | 180-185 |
Number of pages | 6 |
Journal | Archives of neurology |
Volume | 34 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1977 |
Externally published | Yes |
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology