We describe a deep intronic mutation in adult polyglucosan body disease. Similar mechanisms can also explain manifesting heterozygous cases in other inborn metabolic diseases.
To explain the genetic change consistently associated with manifesting heterozygous patients with adult polyglucosan body disease.
Design, Setting, and Participants...
JAMA Neurol. Published online February 09, 2015. doi:10.1001/jamaneurol.2014.4496