Disorders


 

3-Methylglutaconic Aciduria Type 5


Synonym(s): 3 Methylglutaconic Aciduria, Type V, Dilated Cardiomyopathy with Ataxia

 

OMIM

GeneLocusProtein
DNAJC193q26.33Mitochondrial import inner membrane translocase subunit TIM14

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada  
GeneDx - Gaithersburg, MD, USA  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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