Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D.
Orthmann-Murphy JL, et al. Among authors: pareyson d.
Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4.
Brain. 2009.
PMID: 19056803
Free PMC article.