Genotype-Phenotype studies of VCP-associated Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

VCP disease associated with Inclusion body myopathy, Paget disease of the bone and frontotemporal dementia is a progressive autosomal dominant disorder caused by mutations in Valosin containing protein gene. To establish genotype-phenotype correlations we analyzed clinical and biochemical markers fr...

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Main Authors: Mehta, Sarju G., Khare, Manaswitha, Ramani, Rupal, Watts, Giles D. J., Simon, Mariella, Osann, Kathryn E., Donkervoort, Sandra, Dec, Eric, Nalbandian, Angele, Platt, Julia, Pasquali, Marzia, Wang, Annabel, Mozaffar, Tahseen, Smith, Charles D., Kimonis, Virginia E.
Format: Artigo
Jezik:Inglês
Izdano: 2012
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3618576/
https://ncbi.nlm.nih.gov/pubmed/22909335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12000
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