Article
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Journal of molecular neuroscience : MN - 1 Nov 2021
Deepha Sekar, Govindaraj Periyasamy, Sankaran Bindu Parayil, Chiplunkar Shwetha, Kashinkunti Chetan, Nunia Vandana, Nagappa Madhu, Sinha Sanjib, Khanna Tripti, Thangaraj Kumarasamy, Taly Arun B, Gayathri Narayanappa
Abstract excerpt
Polymerase γ catalytic subunit (POLG), a nuclear gene, encodes the enzyme responsible for mitochondrial DNA (mtDNA) replication. POLG mutations are a major cause of inherited mitochondrial diseases. They present with varied phenotypes, age of onset, and severity. Reports on POLG mutations from India are limited. Hence, this study aimed to describe the clinico-pathological and molecular observations of POLG...
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