Atormac
briv
Neurology India
menu-bar5 Open access journal indexed with Index Medicus
  Users online: 39938  
 Home | Login 
About Editorial board Articlesmenu-bullet NSI Publicationsmenu-bullet Search Instructions Online Submission Subscribe Videos Etcetera Contact
  Navigate Here 
 »   Next article
 »   Previous article
 »   Table of Contents

 Resource Links
 »   Similar in PUBMED
 »Related articles
 »   Citation Manager
 »   Access Statistics
 »   Reader Comments
 »   Email Alert *
 »   Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed344    
    Printed18    
    Emailed0    
    PDF Downloaded9    
    Comments [Add]    

Recommend this journal

 

 CASE REPORT
Year : 2021  |  Volume : 69  |  Issue : 6  |  Page : 1817--1819

MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy


1 Department of Neurology, NIMHANS, Bengaluru, Karnataka, India
2 Department of Neurology, Sahyadri Speciality Hospital, Pune, India
3 Advisor and Senior Consultant in Neurology, Apollo Institute of Neurosciences, Jayanagar, Bangalore, India

Correspondence Address:
Dr. Ravindranadh Chowdary Mundlamuri
Department of Neurology, NIMHANS, Bengaluru - 29, Karnataka
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.333468

Rights and Permissions

Mitochondrial DNA depletion syndromes (MDS) are rare mitochondrial disorders with evolving broad genotype and phenotype. This is a first case report from India about MPV 17, a mitochondrial inner membrane protein gene variant mutation, presenting with neuropathy, leucoencephalopathy and subclinical hepatic dysfunction with detailed clinical and imaging description.






[FULL TEXT] [PDF]*


        
Print this article     Email this article

Online since 20th March '04
Published by Wolters Kluwer - Medknow