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Article

Clinical and molecular spectrum associated with Polymerase-γ related disorders.

Journal of child neurology - 1 Mar 2022

Jha Ruchika, Patel Harshkumar, Dubey Rachana, Goswami Jyotindra N, Bhagwat Chandana, Saini Lokesh, K Manokaran Ranjith, John Biju M, Kovilapu Uday B, Mohimen Aneesh, Saxena Apoorv, Sondhi Vishal

Abstract excerpt

BACKGROUND: POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the pediatric population. METHODS: Individuals were recruited across 6 centers in India. Children diagnosed between January 2015 and August 2020...

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PMID: 34986040
DOI: 10.1177/08830738211067065

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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