title: Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
authors.forename: Royston W
authors.initials: RW
authors.lastname: Ong
authors.affiliation: Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: AlSaman
authors.affiliation: Division of Child Neurology and Neuromuscular Disease Research Laboratory, Department of Neurology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Duygu
authors.initials: D
authors.lastname: Selcen
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
authors.forename: Arash
authors.initials: A
authors.lastname: Arabshahi
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
authors.forename: Kyle S
authors.initials: KS
authors.lastname: Yau
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
authors.forename: Gianina
authors.initials: G
authors.lastname: Ravenscroft
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
authors.forename: Rachael M
authors.initials: RM
authors.lastname: Duff
authors.affiliation: Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine Level 2 PP Building, QEII Medical Centre, Nedlands, Western Australia, Australia.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Atkinson
authors.affiliation: Lotterywest State Biomedical Facility Genomics, School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia Department of Clinical Immunology, Royal Perth Hospital, Perth, Western Australia, Australia.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Allcock
authors.affiliation: Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine Level 2 PP Building, QEII Medical Centre, Nedlands, Western Australia, Australia.
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
mesh_terms: D000328:Adult; D001483:Base Sequence / Q000235:genetics*; D051340:Cofilin 2 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D017696:Myopathies, Nemaline / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C495815:CFL2 protein, human; D051340:Cofilin 2
keywords: GENETICS; NEUROMUSCULAR