A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. - Tulinius, M´r; Darin, Niklas; Wiklund, Lars-Martin; Holmberg, Eva; Eriksson, Jan Erik; Lissens, Willy; De Meirleir, Linda; Holme, Elisabeth; Tulinius, Már (European Journal of Pediatrics, 2005)