NDLI: Mitochondrial myopathy and myoclonic epilepsy

Please wait, while we are loading the content...

Mitochondrial myopathy and myoclonic epilepsy

Content Provider	Scilit
Author	Arruda, Walter O. Torres, Luiz F. B. Lombes, Anne DiMauro, Salvatore Cardoso, Belkiss A. Teive, Hélio A. G. Paola, Duilton De Seixas, Ricardo R.
Copyright Year	1990
Description	The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.
Related Links	http://www.scielo.br/pdf/anp/v48n1/06.pdf
Ending Page	43
Page Count	12
Starting Page	32
ISSN	0004282X
e-ISSN	16784227
DOI	10.1590/s0004-282x1990000100006
Journal	Arquivos de Neuro-Psiquiatria
Issue Number	1
Volume Number	48
Language	English
Publisher	FapUNIFESP (SciELO)
Publisher Date	1990-03-01
Access Restriction	Open
Subject Keyword	Psiquiatria Pediatrics and Child Health Myoclonic Epilepsy
Content Type	Text
Resource Type	Article
Subject	Neurology Biological Psychiatry Neurology (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in