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 |
|---|---|
| Pages (from-to) | 180-185 |
| Number of pages | 6 |
| Journal | Archives of Neurology |
| Volume | 34 |
| Issue number | 3 |
| State | Published - Dec 1 1977 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. / Hart, Z. H.; Chang, C. H.; Perrin, E. V D; Neerunjun, J. S.; Ayyar, R.
In: Archives of Neurology, Vol. 34, No. 3, 01.12.1977, p. 180-185.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia
AU - Hart, Z. H.
AU - Chang, C. H.
AU - Perrin, E. V D
AU - Neerunjun, J. S.
AU - Ayyar, R.
PY - 1977/12/1
Y1 - 1977/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0017602089&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0017602089&partnerID=8YFLogxK
M3 - Article
C2 - 843250
AN - SCOPUS:0017602089
VL - 34
SP - 180
EP - 185
JO - Archives of Neurology
JF - Archives of Neurology
SN - 0003-9942
IS - 3
ER -