A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
Iliana A. Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A. Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R. Waterham, Johannes N. Spelbrink, Johan Auwerx, Marcel M. Mannens, Riekelt H. Houtkooper, Astrid S. Plomp
bioRxiv 115790; doi: https://doi.org/10.1101/115790