Article
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
European journal of human genetics : EJHG - 1 Jun 2017
Hellebrekers Debby M E I, Sallevelt Suzanne C E H, Theunissen Tom E J, Hendrickx Alexandra T M, Gottschalk Ralph W, Hoeijmakers Janneke G J, Habets Daphna D, Bierau Jörgen, Schoonderwoerd Kees G, Smeets Hubert J M
Abstract excerpt
In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness and exercise intolerance, exome sequencing revealed a novel homozygous variant (c.-264_31delinsCTCACAAATGCTCA) in the mitochondrial FAD-transporter gene SLC25A32. Flavin adenine dinucleotide (FAD) is an essential co-factor for many mitochondrial enzymes and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.