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

64 Scopus citations

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

Access to Document

10.1001/archneur.1977.00500150066013

Fingerprint Dive into the research topics of 'Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia'. Together they form a unique fingerprint.

Cite this

@article{f0513f7e766840339c2e8a0257a130b9,

title = "Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia",

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.",

author = "Hart, {Zwi H.} and Chang, {Chung Ho} and Perrin, {Eugene V.D.} and Neerunjun, {Joseph S.} and Ram Ayyar",

year = "1977",

month = mar,

doi = "10.1001/archneur.1977.00500150066013",

language = "English (US)",

volume = "34",

pages = "180--185",

journal = "Archives of Neurology",

issn = "0003-9942",

publisher = "American Medical Association",

number = "3",

}

TY - JOUR

T1 - Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia

AU - Hart, Zwi H.

AU - Chang, Chung Ho

AU - Perrin, Eugene V.D.

AU - Neerunjun, Joseph S.

AU - Ayyar, Ram

PY - 1977/3

Y1 - 1977/3

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

U2 - 10.1001/archneur.1977.00500150066013

DO - 10.1001/archneur.1977.00500150066013

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 -

Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this