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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...
Two Croatian siblings with atypical clinical findings in the presence of SMN1 gene mutations are reported. The girl presented with delayed motor development and weakness in hands and feet in her first year of life. She never stood or walked and developed scoliosis and joint contractures during childhood. Her hands and feet were non-functional when last seen at age 14 years. Her 4-year-old brother...
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