Article

Altered glutamine metabolism of cultured fibroblasts predicts severity of cardiac dysfunction in the dilated cardiomyopathy with ataxia syndrome (DCMA), a mitochondrial cardiomyopathy

2020-10-11

Abstract excerpt

Dilated cardiomyopathy with ataxia (DCMA) syndrome is a rare mitochondrial disorder caused by mutations in the poorly understood DNAJC19 gene. The clinical presentation of DCMA is very diverse with symptoms ranging from mild cardiac dysfunction to intractable heart failure leading to death in early childhood. Although several lines of evidence indicate that DCMA symptoms are linked to mitochondrial function, the...

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Literature Corpus work: 1d5e338a-f940-52eb-97f2-fdace6d58de3
DOI: 10.1101/2020.10.11.334938

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