title: Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor.
authors.affiliation: Queen Elizabeth University Hospital, Glasgow, UK.
authors.forename: Sacha E
authors.initials: SE
authors.lastname: Gandhi
authors.affiliation: Department of Clinical Genetics, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors.forename: Helen R
authors.initials: HR
authors.lastname: Murphy
authors.affiliation: Department of Neurology, Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford, UK.
authors.forename: Mark W
authors.initials: MW
authors.lastname: Kellett
authors.affiliation: Department of Neuroradiology, Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford, UK.
authors.forename: Rekha
authors.initials: R
authors.lastname: Siripurapu
authors.affiliation: Department of Neurology, Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford, UK; Centre for Clinical and Cognitive Sciences, Institute of Brain Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address: Christopher.kobylecki@manchester.ac.uk.
authors.forename: Christopher
authors.initials: C
authors.lastname: Kobylecki
mesh_terms: D000328:Adult; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D006223:Hamartoma Syndrome, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D058627:Megalencephaly / Q000000981:diagnostic imaging / Q000235:genetics; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D014202:Tremor / Q000235:genetics* / Q000473:pathology*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: Genetics; Leukodystrophies; MRI; Tremor