Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity
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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