miércoles, 30 de septiembre de 2020

Phenotypic diversity in an international Cure VCP Disease registry | Orphanet Journal of Rare Diseases | Full Text

Phenotypic diversity in an international Cure VCP Disease registry | Orphanet Journal of Rare Diseases | Full Text

  1. Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget’s disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP). The g...
    Authors:Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey M. Statland and Conrad C. Weihl
    Citation:Orphanet Journal of Rare Diseases 2020 15:267
    Content type:Research
     
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