Disorders


 

Multiple Mitochondrial Dysfunctions Syndrome 1


Synonym(s): MMDS1

 

OMIM

GeneLocusProtein
NFU12p15-p13NFU1 iron-sulfur cluster scaffold homolog, mitochondrial

Laboratory Test Method Prenatal Carrier *
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region

* 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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