Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia

Authors:
  • ZHZwi H. Hart
    Zwi H. Hart
  • CCChung-Ho Chang
    Chung-Ho Chang
  • EPEugene V. D. Perrin
    Eugene V. D. Perrin
  • JNJoseph S. Neerunjun
    Joseph S. Neerunjun
  • RARam Ayyar
    Ram Ayyar

Abstract
• We describe a 16-year-old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate levels in the blood and cerebrospinal fluid. His sister died at 18 years of age of a similar condition.

This publication has 8 references indexed in Scilit: