Related Experiment Video
Updated: Feb 1, 2026

Author Spotlight: Advanced Integrated Model for Sepsis-Induced Myopathy and Single-Cell Metabolic Analysis
Published on: June 14, 2024
VCP myopathy: A family with unusual clinical manifestations
Xuan Guo1, Zhe Zhao1, Hongrui Shen1
1Department of Neuromuscular Disease, The Third Hospital of Hebei Medical University, 139# Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, P. R. China.
Introduction:
Valosin-containing protein (VCP) variants that affect muscle, bone, and the nervous system are termed multisystem proteinopathy. VCP myopathy is manifested as limb-girdle weakness, distal weakness and scapuloperoneal weakness.
Methods:
We reviewed clinical, genetic, and muscle biopsy data from 6 members of a family with VCP myopathy.
Results:
Clinical features of family members were complex and included dementia, myopathy, and hearing impairment. Ophthalmoplegia, ptosis, and dysphagia were present in 3 siblings. Rimmed vacuoles were observed in muscle biopsies, consistent with the pathological changes of VCP myopathy. A heterozygous VCP c.463C>A (p.R155S) that segregated in an autosomal-dominant pattern was identified by genetic analysis.
Conclusions:
VCP myopathy can cause unusual manifestations that include ophthalmoplegia, ptosis, and dysphagia. This study increased our understanding of the clinical manifestations of VCP myopathy. Muscle Nerve 59:365-369, 2019.
Related Concept Videos
Acute Pancreatitis II: Clinical Manifestations and Management
Angina III: Clinical Manifestations and Assessment
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Chronic Kidney Disease II: Clinical Manifestations
Esophageal Perforation-II: Clinical Manifestations and Management
Clinical Manifestations:

