Article
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.
Clinical genetics - 1 May 2018
Almannai M, Alasmari A, Alqasmi A, Faqeih E, Al Mutairi F, Alotaibi M, Samman M M, Eyaid W, Aljadhai Y I, Shamseldin H E, Craigen W, Alkuraya F S
Abstract excerpt
SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 12 additional individuals with the same founder mutation who presented with variable...
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