Homozygous PLA2G6 (PARK 14) gene mutation associated neuropsychiatric phenotypes from southern India.

Abstract excerpt

PLA2G6 gene associated neurodegenerative disorders resulting from homozygous c. 2222G > A (p.Arg741Gln) mutation were detected in two cases having variable neuropsychiatric phenotypic and imaging findings. Exome analysis helped identification of rare alleles, reinforcing ethnographic antecedents to geographical clustering of rare mutations and, essential to understanding biology of neurodegenerative disorders.

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