Childhood neuromuscular disease with rimmed vacuoles.
A 5-year-old boy suffered from a slowly progressive non-familial neuromuscular disease, clinically marked by generalised muscle weakness, atrophy and hypotonia, a "myopathic" EMG and mildly elevated CK values. His gastrocnemius muscle showed marked myopathy, type I fibre predominance, and numerous "rimmed" vacuoles. This boy's condition is regarded as a childhood neuromuscular disease with rimmed vacuoles.
Goebel
H H
HH
von Loh
S
S
Gehler
J
J
D002675:Child, Preschool; D006801:Humans; D008297:Male; D009132:Muscles / Q000648:ultrastructure*; D009468:Neuromuscular Diseases / Q000473:pathology*; D009940:Organoids / Q000648:ultrastructure*; D014617:Vacuoles / Q000648:ultrastructure*