Sebahattin Cirak, Florian von Deimling, Shrikesh Sachdev, Wesley J. Errington, Ralf Herrmann, Carsten Bönnemann, Knut Brockmann, Stephan Hinderlich, Tom H. Lindner, Alice Steinbrecher, Katrin Hoffmann, Gilbert G. Privé, Mark Hannink, Peter Nürnberg, Thomas Voit. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain 2010; 133: 2123–2135; doi.org/10.1093/brain/awq108.
The description of the identified pathogenic variant was not correct according to the most recent HGVS nomenclature regulations.
The correct description is NM_018847.2 (KLHL9_v001):c.283C>T; p.(Leu95Phe), which is based on codon 95 being mutated from CTT Leu to TTT Phe.
The authors apologize for the incompliance with the HGVS nomenclature regulations for this variant.