6533b826fe1ef96bd1283ea6

RESEARCH PRODUCT

Childhood neuromuscular disease with rimmed vacuoles

Hans H. GoebelS. Von LohJ. Gehler

subject

MaleNeuromuscular diseasemedicine.diagnostic_testbusiness.industryMusclesRimmed vacuolesMuscle weaknessNeuromuscular DiseasesAnatomymedicine.diseaseHypotoniaOrganoidsGastrocnemius muscleAtrophyChild PreschoolVacuolesPediatrics Perinatology and Child HealthBiopsymedicineHumansmedicine.symptombusinessMyopathy

description

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.

https://doi.org/10.1007/bf00496035