British Journal of Ophthalmology · 1983 · 44 citations · 0 references
MedicineNeurologyPathologyHistopathologyNeuromuscular DisordersNeuropathologyAge-related Muscle LossAge-related Visual ImpairmentGenetic DisordersMuscle PathologyMuscular DystrophyNeurodegenerative DiseasesFiber Type AtrophyGlycogen AccumulationGlycogen Phosphorylase DeficiencyGlycogen Storage MyopathiesMcardle DiseaseMuscle Biopsy HistologyMuscle Fiber AtrophySkeletal Myopathy
McArdle9s disease is a metabolic myopathy of glycogen utilization caused by an absence or deficiency of myophosphorylase.The muscle biopsy features include increased deposition of subsarcolemmal glycogen and absent phosphorylase histochemical staining of myofibers. We report the clinical and unique pathologic findings in three cases of McArdle9s disease with prominent type 1 fiber atrophy. <b>NEUROLOGY 1996;47: </b> 581-583