Abstract
Patient 1, a 23-year-old male, and patient 2, a 28-year-old female, developed progressive painless footdrop at age 18 and 20 years, respectively. The weakness progressed to involve distal upper limb and proximal muscles. Neurologic examination showed generalized limb weakness, most severely affecting tibialis anterior. Creatine kinase levels were mildly elevated. Needle electromyography detected myopathic motor unit potentials and frequent fibrillation potentials. Muscle biopsy revealed several fibers harboring rimmed vacuoles and a few fibers containing non-rimmed vacuoles filled with periodic acid-Schiff-positive, diastase-labile material, consistent with glycogen (Fig. 1).
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