mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Cecilia Marelli Christian Hamel Melanie Quiles Bertrand Carlander Lise Larrieu Cecile Delettre Emmanuelle Sarzi Dominique Chretien Pierre Rustin Michel Koenig Claire Guissart

Neurol Genet

Department of Neurology (C.M., B.C.), Gui de Chauliac Montpellier University Hospital; EA7402 Institut Universitaire de Recherche Clinique (C.M., L.L., M.K., C.G.), and Laboratoire de Génétique Moléculaire, University Hospital; Maladies Sensorielles Génétiques (C.H., M.Q., C.D., E.S.), CHRU; INSERM U1051 (C.H., M.Q., C.D., E.S.), Institute for Neurosciences of Montpellier; Université Montpellier (C.H., M.Q., C.D., E.S.), France; INSERM UMR 1141 (D.C., P.R.), PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, France.

Published: April 2018

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860906	PMC
http://dx.doi.org/10.1212/NXG.0000000000000225	DOI Listing

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