title: Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.
abstract: Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.
authors.affiliation: Department of Neurological and Psychiatric Nursing, Medical University of Gdansk, Gdansk, Poland, szyna777@gmail.com.
authors.forename: M
authors.initials: M
authors.lastname: Schinwelski
authors.forename: B
authors.initials: B
authors.lastname: Kierdaszuk
authors.forename: J
authors.initials: J
authors.lastname: Dulski
authors.forename: K
authors.initials: K
authors.lastname: Tońska
authors.forename: A
authors.initials: A
authors.lastname: Kodroń
authors.forename: E J
authors.initials: EJ
authors.lastname: Sitek
authors.forename: E
authors.initials: E
authors.lastname: Bartnik
authors.forename: A
authors.initials: A
authors.lastname: Kamińska
authors.forename: H
authors.initials: H
authors.lastname: Kwieciński
authors.forename: J
authors.initials: J
authors.lastname: Sławek
mesh_terms: D000328:Adult; D005500:Follow-Up Studies; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009245:NADH Dehydrogenase / Q000235:genetics; D010641:Phenotype
chemical_list: D009245:NADH Dehydrogenase