Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

In Blackburn et al. (2017), the novel frameshift deletion variant that appeared throughout the article was published as:

“c.4485_4500del, p.Tyr1495X”

It should have read as:

“c.4485_4500del, p.Trp1495X”

We also referred to a nonsense variant reported in Klein et al. (2012) (https://doi.org/10.1002/humu.22136) in their supplemental Table S1b as ‘c.4485G>A; p.Tyr1495X,’ that results in an equivalent protein truncation. This variant should also be reported as c.4485G>A, p.Trp1495X.

We apologize for this error.