Skip to main content
Neurology logoLink to Neurology
. 2015 Feb 10;84(6):633. doi: 10.1212/WNL.0000000000001246

Novel CLN3 mutation causing autophagic vacuolar myopathy

PMCID: PMC5028330

In the article “Novel CLN3 mutation causing autophagic vacuolar myopathy” by A. Cortese et al. (Neurology® 2014;82:2072–2076), there is an error in the Results regarding the ASPHD1 variant. The ASPHD1 variant should have been described as a duplication: c.513_515dup resulting in p.(Gly172dup), which might retain some functionality (this is a known issue with the software used to annotate the variants in the whole exome sequencing data). The authors regret the error.


Articles from Neurology are provided here courtesy of American Academy of Neurology

RESOURCES