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Muscle Biopsy: A Boon for Diagnosis of Mitochondrial Parkinsonism in Developing Countries.

Authors :
Shree R
Mehta S
Goyal MK
Gaspar BL
Lal V
Source :
Annals of Indian Academy of Neurology [Ann Indian Acad Neurol] 2019 Apr-Jun; Vol. 22 (2), pp. 228-230.
Publication Year :
2019

Abstract

Mitochondrial dysfunction plays an important role in the pathogenesis of Parkinson's disease. Primary genetic abnormalities in the mitochondrial DNA or nuclear DNA can cause parkinsonism. Mitochondrial parkinsonism presents with classical features of parkinsonism along with multisystem involvement. Genetic analysis is essential in reaching the diagnosis which is not always possible, especially in developing countries. Muscle biopsy can be a boon in this setting as exemplified in our report of two siblings where a diagnosis of mitochondrial parkinsonism was made on the basis of muscle biopsy.<br />Competing Interests: There are no conflicts of interest.

Details

Language :
English
ISSN :
0972-2327
Volume :
22
Issue :
2
Database :
MEDLINE
Journal :
Annals of Indian Academy of Neurology
Publication Type :
Report
Accession number :
31007443
Full Text :
https://doi.org/10.4103/aian.AIAN_436_17