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Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM. Hellebrekers DMEI, et al. Among authors: hendrickx atm. Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26. Eur J Hum Genet. 2017. PMID: 28443623 Free PMC article.
De novo mtDNA point mutations are common and have a low recurrence risk.
Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ. Sallevelt SC, et al. Among authors: hendrickx at. J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22. J Med Genet. 2017. PMID: 27450679 Free PMC article.
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
Theunissen TEJ, Sallevelt SCEH, Hellebrekers DMEI, de Koning B, Hendrickx ATM, van den Bosch BJC, Kamps R, Schoonderwoerd K, Szklarczyk R, Mulder-Den Hartog ENM, de Coo IFM, Smeets HJM. Theunissen TEJ, et al. Among authors: hendrickx atm. J Pediatr. 2017 Mar;182:371-374.e2. doi: 10.1016/j.jpeds.2016.12.032. Epub 2017 Jan 9. J Pediatr. 2017. PMID: 28081892