splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria.

Susana Carmona Clara Marecos Marta Amorim Ana C Ferreira Carla Conceição José Brás Sofia T Duarte Rita Guerreiro

Neurol Genet

Department of Molecular Neuroscience (S.C., J.B., R.G.), UCL Institute of Neurology, University College London, United Kingdom; Paediatric Neurology Department (C.M., S.T.D.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central; Genetics Department (M.A.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central; Reference Center of Inherited Metabolic Diseases (A.C.F.), Centro Hospitalar de Lisboa Central; Neuroradiology Department (C.C.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal; UK Dementia Research Institute (J.B., R.G.), University College London, United Kingdom; and Department of Medical Sciences (J.B., R.G.), Institute of Biomedicine, iBiMED, University of Aveiro, Portugal.

Published: October 2018

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167175	PMC
http://dx.doi.org/10.1212/NXG.0000000000000273	DOI Listing

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