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C173146Level 9

3-Methylglutaconic Aciduria Type 5

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive subtype of 3-methylglutaconic aciduria caused by mutation(s) in the DNAJC19 gene, encoding mitochondrial import inner membrane translocase subunit TIM14.

**Synonyms:** - 3-Methylglutaconic Aciduria Type V - DCMA - Dilated Cardiomyopathy with Ataxia - MGCA5

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