Childhood neuromuscular disease with rimmed vacuoles

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...

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Veröffentlicht in:European journal of pediatrics 1986-04, Vol.144 (6), p.557-562
Hauptverfasser: GOEBEL, H. H, VON LOH, S, GEHLER, J
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Child, Preschool
Diseases of striated muscles. Neuromuscular diseases
Humans
Male
Medical sciences
Muscles - ultrastructure
Neurology
Neuromuscular Diseases - pathology
Organoids - ultrastructure
Vacuoles - ultrastructure
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Zusammenfassung: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00496035