Progressive cerebellar atrophy and a novel homozygous pathogenic DNAJC19 variant as a cause of dilated cardiomyopathy ataxia syndrome

We present a new patient with a novel pathogenic variant in the DNAJC19 gene with novel neuroimaging finding of progressive cerebellar atrophy.

Source: Pediatric Neurology - June 2, 2016 Category: Neurology Authors: Amal Al Teneiji, Komudi Siriwardena, Kristen George, Seema Mital, Saadet Mercimek-Mahmutoglu Tags: Clinical Observations Source Type: research