Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12962
Abstract: I read with interest the article by Pauly and colleagues about a family in which the father carried the variants c.844T>G in POLG1 and c.937G>A in CLCN1. The POLG1 variant manifested with ptosis, ophthalmoparesis, parkinsonism,… read more here.
Keywords: mtdna; clcn1; clcn1 variant; polg1 variant ... See more keywords
Abstract 1494: Interethnic germline variants in mitochondrial DNA polymerase (POLG1) induce mitochondrial dysfunction and confer tumorigenic properties
Sign Up to like & getrecommendations! Published in 2017 at "Cancer Research"
DOI: 10.1158/1538-7445.am2017-1494
Abstract: Purpose: Germline variants contribute to large fraction of the diversity observed among different ethnic groups and could give better insights in genetic predisposition and susceptibility from one population to another for certain disease including cancer.… read more here.
Keywords: mitochondrial dna; polymerase; cancer; germline ... See more keywords