Clinical spectrum of valosin containing protein (VCP)-opathy

ABSTRACT Introduction: Valosin containing protein (VCP) mutations cause a rare disorder characterized by hereditary inclusion body myopathy, Paget disease of bone (PDB), and frontotemporal dementia (FTD) with variable penetrance. VCP mutations have also been linked to amyotrophic lateral sclerosis a...

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Veröffentlicht in:	Muscle & nerve 2016-06, Vol.54 (1), p.94-99
Hauptverfasser:	Kazamel, Mohamed, Sorenson, Eric J., McEvoy, Kathleen M., Jones Jr, Lyell K., Leep-Hunderfund, Andrea N., Mauermann, Michelle L., Milone, Margherita
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - genetics Adult Cell Cycle Proteins - genetics Family Health Female Frontotemporal Dementia - genetics Frontotemporal Dementia - pathology FTD hereditary IBM Humans inclusion body myopathy Male Middle Aged Muscle, Skeletal - metabolism Mutation Mutation - genetics Osteitis Deformans - genetics Osteitis Deformans - pathology Patients Valosin Containing Protein VCP
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