Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries
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 involvem...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2019-01-01
|
Series: | Annals of Indian Academy of Neurology |
Subjects: | |
Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=2;spage=228;epage=230;aulast=Shree |
id |
doaj-5f47cea3640542108ba9aa4dffe7809c |
---|---|
record_format |
Article |
spelling |
doaj-5f47cea3640542108ba9aa4dffe7809c2020-11-25T00:19:03ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492019-01-0122222823010.4103/aian.AIAN_436_17Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countriesRitu ShreeSahil MehtaManoj K GoyalBalan L GasparVivek LalMitochondrial 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.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=2;spage=228;epage=230;aulast=ShreeDystoniamitochondriamuscle biopsyParkinsonism |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ritu Shree Sahil Mehta Manoj K Goyal Balan L Gaspar Vivek Lal |
spellingShingle |
Ritu Shree Sahil Mehta Manoj K Goyal Balan L Gaspar Vivek Lal Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries Annals of Indian Academy of Neurology Dystonia mitochondria muscle biopsy Parkinsonism |
author_facet |
Ritu Shree Sahil Mehta Manoj K Goyal Balan L Gaspar Vivek Lal |
author_sort |
Ritu Shree |
title |
Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries |
title_short |
Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries |
title_full |
Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries |
title_fullStr |
Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries |
title_full_unstemmed |
Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries |
title_sort |
muscle biopsy: a boon for diagnosis of mitochondrial parkinsonism in developing countries |
publisher |
Wolters Kluwer Medknow Publications |
series |
Annals of Indian Academy of Neurology |
issn |
0972-2327 1998-3549 |
publishDate |
2019-01-01 |
description |
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. |
topic |
Dystonia mitochondria muscle biopsy Parkinsonism |
url |
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=2;spage=228;epage=230;aulast=Shree |
work_keys_str_mv |
AT ritushree musclebiopsyaboonfordiagnosisofmitochondrialparkinsonismindevelopingcountries AT sahilmehta musclebiopsyaboonfordiagnosisofmitochondrialparkinsonismindevelopingcountries AT manojkgoyal musclebiopsyaboonfordiagnosisofmitochondrialparkinsonismindevelopingcountries AT balanlgaspar musclebiopsyaboonfordiagnosisofmitochondrialparkinsonismindevelopingcountries AT viveklal musclebiopsyaboonfordiagnosisofmitochondrialparkinsonismindevelopingcountries |
_version_ |
1725373495547789312 |