PedAM

Pediatric Disease Annotations & Medicines

Disease	ataxia
Phenotype	C0007193\|dilated cardiomyopathy
Sentences	9
PubMedID- 24856930	Here, we have defined the interactome of phb2 in mitochondria and identified dnajc19, mutated in dilated cardiomyopathy with ataxia, as binding partner of phb complexes.
PubMedID- 20882351	The 3-mga-uria type v, or dilated cardiomyopathy with ataxia (dcma) syndrome, is a novel autosomal recessive condition with early-onset dilated cm with conduction defects and nonprogressive cerebellar ataxia in 18 patients of the canadian dariusleut hutterite population, further characterized by testicular dysgenesis and growth failure (davey et al.
PubMedID- 23035161	Kidney infarction in friedreich's ataxia with dilated cardiomyopathy.
PubMedID- 20396601	dilated cardiomyopathy with ataxia (dcma) is caused by a mutation in dnajc19, which is thought to be a homolog of yeast tim14 [76].
PubMedID- 21112411	dilated cardiomyopathy with ataxia (dcma) or 3-methylglutaconic aciduria, type v (omim 610198) is an autosomal recessive disorder found in the dariusleut hutterite population of canada and the northern united states.
PubMedID- 26301254	dilated cardiomyopathy with ataxia (dcma) syndrome is an autosomal recessive genetic disorder that is characterized by early onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria [100].
PubMedID- 24786642	Mutations in dnajc19 preventing magmas/dnajc19 dimerization have been shown to lead to dilated cardiomyopathy with ataxia syndrome (dcma) [26], [27].
PubMedID- 20053669	Thus, our study underlines the possible molecular mechanism for the physiological symptoms of dilated cardiomyopathy with ataxia (dcm) syndrome which is associated with a truncated dnajc19 protein.
PubMedID- 26115894	In barth syndrome and dilated cardiomyopathy with ataxia syndrome, 2-eha is a byproduct of impeded propionyl coa entry into the krebs cycle.

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