Article
Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.
Pediatric neurology - 1 Sept 2016
Al Teneiji Amal, Siriwardena Komudi, George Kristen, Mital Seema, Mercimek-Mahmutoglu Saadet
Abstract excerpt
BACKGROUND: The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19. We present a new patient with a novel pathogenic variant in DNAJC19 with novel neuroimaging finding of progressive cerebellar atrophy. PATIENT DESCRIPTION AND RESULTS: We describe a new patient with dilated cardiomyopathy with ataxia syndrome presenting with global...
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