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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
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.333468

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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.


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