Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation
Author
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-10-09
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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 clinical, laboratory, electrodiagnostic, radiographic, pathologic, and genetic testing.
She continued to present with chronic neck pain, and had variable features of scapuloperoneal atrophy, which was also seen in her family.
The patient and her family were found to have a known pathogenic c.464G>A, p.Arg155His (R155H) mutation in the VCP gene.
Despite traditional thinking of attempting to localize neurological syndromes, VCP mutations are difficult to localize as they can present with significant clinical heterogeneity including a scapuloperoneal syndrome with variable neuropathic and myopathic features.
American Psychological Association (APA)
Jerath, Nivedita U.. 2019. Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1136008
Modern Language Association (MLA)
Jerath, Nivedita U.. Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation. Case Reports in Genetics No. 2019 (2019), pp.1-7.
https://search.emarefa.net/detail/BIM-1136008
American Medical Association (AMA)
Jerath, Nivedita U.. Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1136008
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136008