Affiliation: University of Oxford
- A patient with 2 different repeat expansion mutationsP Nokelainen
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, England
Arch Neurol 57:1199-203. 2000..Many inherited progressive encephalopathies have a poor outcome, and some are caused by repeat expansion mutations. How would the presence of 2 different expansion mutations affect the phenotype?..
- Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?P Nokelainen
Institute of Molecular Medicine, Department of Molecular Haematology, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom
Am J Med Genet 103:198-206. 2001..We argue that these boys had an unidentified inherited syndrome, possibly modified by fetal alcohol exposure...