eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia |
| Comorbidity | C0007193|dilated cardiomyopathy |
| Sentences | 8 |
| 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. |
| 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- 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- 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- 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- 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- 24786642 | Mutations in dnajc19 preventing magmas/dnajc19 dimerization have been shown to lead to dilated cardiomyopathy with ataxia syndrome (dcma) [26], [27]. |
| PubMedID- 23035161 | Kidney infarction in friedreich's ataxia with dilated cardiomyopathy. |
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