title: Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
authors.affiliation: MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: Tomaselli
authors.affiliation: MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
authors.forename: Alexander M
authors.initials: AM
authors.lastname: Rossor
authors.affiliation: Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
authors.forename: James M
authors.initials: JM
authors.lastname: Polke
authors.affiliation: Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
authors.forename: Roy
authors.initials: R
authors.lastname: Poh
authors.affiliation: MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.|Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.
authors.forename: Julian
authors.initials: J
authors.lastname: Blake
authors.affiliation: MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D020558:GTP Phosphohydrolases / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases
keywords: Charcot-Marie-Tooth disease; Mitofusin 2; dominant; recessive; semi-dominant