Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

Background: Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19. To date DCMA syndrome has been reported in 19 patients...

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Publicado en:JIMD Rep
Autores principales: Ucar, Sema Kalkan, Mayr, Johannes A., Feichtinger, René G., Canda, Ebru, Çoker, Mahmut, Wortmann, Saskia B.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2016
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585102/
https://ncbi.nlm.nih.gov/pubmed/27928778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_23
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