title: Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.
authors.affiliation: Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.
authors.forename: Johanna
authors.initials: J
authors.lastname: Palmio
authors.affiliation: Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Anni
authors.initials: A
authors.lastname: Evilä
authors.affiliation: Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Ayat
authors.initials: A
authors.lastname: Bashir
authors.affiliation: Department of Neurology, King's College Hospital, London, UK.
authors.forename: Fiona
authors.initials: F
authors.lastname: Norwood
authors.affiliation: Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.
authors.forename: Kati
authors.initials: K
authors.lastname: Viitaniemi
authors.affiliation: Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Anna
authors.initials: A
authors.lastname: Vihola
authors.affiliation: Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland.
authors.forename: Sanna
authors.initials: S
authors.lastname: Huovinen
authors.affiliation: Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
authors.affiliation: Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Peter
authors.initials: P
authors.lastname: Hackman
authors.affiliation: Department of Neurology, Columbia University Medical Centre, New York, New York, USA.
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.affiliation: Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
authors.affiliation: Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland Department of Neurology, Vasa Central Hospital, Vasa, Finland.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics*; D010375:Pedigree; D010608:Pharyngeal Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D064706:Vocal Cord Dysfunction / Q000150:complications / Q000235:genetics* / Q000473:pathology*
chemical_list: C518587:MATR3 protein, human; D034521:Nuclear Matrix-Associated Proteins; D016601:RNA-Binding Proteins
keywords: GENETICS; MOTOR NEURON DISEASE; MUSCLE DISEASE; NEUROMUSCULAR; NEUROPATHOLOGY, MUSCLE