title: Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.
abstract: The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C>A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness, sensory neuropathy, elevated resting plasma lactate, glucose intolerance and impaired VO2max while her sons only had mild ptosis. In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons.
authors.affiliation: Department of Neurology, The Neuromuscular Research Unit and The Copenhagen Muscle Research Centre, Section 7611, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. Dysgaard@rh.dk
authors.forename: Tina D
authors.initials: TD
authors.lastname: Jeppesen
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
authors.forename: Eskild
authors.initials: E
authors.lastname: Colding-Jørgensen
authors.forename: Thomas
authors.initials: T
authors.lastname: Krag
authors.forename: Simon
authors.initials: S
authors.lastname: Hauerslev
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000328:Adult; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype
chemical_list: D024101:Mitochondrial Proteins; D004265:DNA Helicases; C431576:TWNK protein, human