Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

Z. H. Hart, C. H. Chang, E. V D Perrin, J. S. Neerunjun, R. Ayyar

Research output: Contribution to journalArticle

64 Citations (Scopus)

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
Pages (from-to)180-185
Number of pages6
JournalArchives of Neurology
Volume34
Issue number3
StatePublished - Dec 1 1977
Externally publishedYes

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Mitochondrial Myopathies
Pyruvic Acid
Oxygen Consumption
Cerebrospinal Fluid
Dementia
Siblings
Lactic Acid
Seizures
Oxygen
Pathway
Defects
Boys
Familial
Sister
Blood

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Hart, Z. H., Chang, C. H., Perrin, E. V. D., Neerunjun, J. S., & Ayyar, R. (1977). Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Archives of Neurology, 34(3), 180-185.

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 journalArticle

Hart, ZH, Chang, CH, Perrin, EVD, Neerunjun, JS & Ayyar, R 1977, 'Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia', Archives of Neurology, vol. 34, no. 3, pp. 180-185.
Hart ZH, Chang CH, Perrin EVD, Neerunjun JS, Ayyar R. Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Archives of Neurology. 1977 Dec 1;34(3):180-185.
Hart, Z. H. ; Chang, C. H. ; Perrin, E. V D ; Neerunjun, J. S. ; Ayyar, R. / Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. In: Archives of Neurology. 1977 ; Vol. 34, No. 3. pp. 180-185.
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