title: Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein.
authors: Department of Neurology and Neurophysiology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
authors: Robert
authors: R
authors: Boland-Freitas
authors: Brisbane Waters Private Hospital, Woy Woy, New South Wales, Australia.
authors: John
authors: J
authors: Graham
authors: Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QE II Medical Centre, Nedlands, Western Australia, Australia.
authors: Mark
authors: M
authors: Davis
authors: Department of Neurology, Westmead Hospital, Westmead, New South Wales, Australia.|Department of Neurophysiology, Westmead Hospital, Westmead, New South Wales, Australia.
authors: Nimeshan
authors: N
authors: Geevasinga
authors: Department of Neurology, Westmead Hospital, Westmead, New South Wales, Australia.|Department of Neurophysiology, Westmead Hospital, Westmead, New South Wales, Australia.
authors: Steve
authors: S
authors: Vucic
authors: Department of Neurology and Neurophysiology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
authors: Karl
authors: K
authors: Ng
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000368:Aged; D018797:Cell Cycle Proteins / Q000235:genetics*; D049310:Distal Myopathies / Q000235:genetics* / Q000473:pathology*; D004576:Electromyography; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D034941:Upper Extremity / Q000503:physiopathology*; D014633:Valine / Q000235:genetics; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D007532:Isoleucine; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein; D014633:Valine