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Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation
Valosin containing protein (VCP) mutations have been reported to present with a high degree of variability and can be present in patients even if they may have an initial normal work up. A 55-year-old woman was labeled as “normal” and “pain medication seeking” after an unrevealing work up of clinica...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6803746/ https://www.ncbi.nlm.nih.gov/pubmed/31687228 http://dx.doi.org/10.1155/2019/2403024 |