Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review
BackgroundMissense VCP gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases. Myopathy is the most frequent manifestation characterized by slowly progressing weakness of proximal and distal limb muscles. We present a family with myopathy du...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2023-12-01
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| Schriftenreihe: | Frontiers in Neurology |
| Schlagworte: | |
| Online-Zugang: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1290960/full |
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