6533b826fe1ef96bd1283ea6
RESEARCH PRODUCT
Childhood neuromuscular disease with rimmed vacuoles
Hans H. GoebelS. Von LohJ. Gehlersubject
MaleNeuromuscular diseasemedicine.diagnostic_testbusiness.industryMusclesRimmed vacuolesMuscle weaknessNeuromuscular DiseasesAnatomymedicine.diseaseHypotoniaOrganoidsGastrocnemius muscleAtrophyChild PreschoolVacuolesPediatrics Perinatology and Child HealthBiopsymedicineHumansmedicine.symptombusinessMyopathydescription
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.
year | journal | country | edition | language |
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1986-04-01 | European Journal of Pediatrics |