Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Jennifer L. Orthmann-Murphy; Ettore Salsano; Charles K. Abrams; Alberto Bizzi; Graziella Uziel; Mona M. Freidin; Eleonora Lamantea; Massimo Zeviani; Steven S. Scherer; Davide Pareyson; Brain: A Journal of Neurology, 2009, vol. 132, issue 2, p 426, ISSN 00068950. ISBN 14602156.

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