Article
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
American journal of medical genetics. Part A - 1 Apr 2020
Birjiniuk Alona, Glinton Kevin E, Villafranco Natalie, Boyer Suzanne, Laufman Jason, Mizerik Elizabeth, Scott Daryl, Elsea Sarah H, Galambos Csaba, Varghese Nidhy P, Scaglia Fernando
Abstract excerpt
Pulmonary hypertension (pHTN) is a severe, life-threatening disease, which can be idiopathic or associated with an underlying syndrome or genetic diagnosis. Here we discuss a patient who presented with severe pHTN and was later found to be compound heterozygous for pathogenic variants in the NFU1 gene causing multiple mitochondrial dysfunctions syndrome 1 (MMDS1). Review of autopsy slides from an older sibling...
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