Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency.

This report illustrates the importance of considering mitochondrial disease even when laboratory findings are normal, and the added value of targeted sequencing of introns.
PMID: 33278652 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - December 2, 2020 Category: Genetics & Stem Cells Authors: Naber M, Hellebrekers D, Nievelstein RAJ, van Hasselt PM, van Jaarsveld RH, Cuppen I, Oegema R Tags: Eur J Med Genet Source Type: research