Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia

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

doi:10.1001/archneur.1977.00500150066013

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 journal › Article › peer-review

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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)
Pages (from-to)	180-185
Number of pages	6
Journal	Archives of neurology
Volume	34
Issue number	3
DOIs	https://doi.org/10.1001/archneur.1977.00500150066013
State	Published - Mar 1977
Externally published	Yes

ASJC Scopus subject areas

Arts and Humanities (miscellaneous)
Clinical Neurology

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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.",

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AU - Neerunjun, Joseph S.

AU - Ayyar, Ram

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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.

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Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia

Abstract

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