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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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
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Article
Acceso en línea: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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