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AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria

Susana Carmona1, Clara Marecos1, Marta Amorim1

  • 1Department 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.

Neurology. Genetics
|October 5, 2018
PubMed
Abstract

No abstract available in PubMed .

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