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Washington University Experience | MUSCLE | Centronuclear myopathy | 1A1 Centronuclear myopathy (Case 1) H&E 2
Case 1 History ---- The patient is a 5-week-old male infant with hypotonia, facial weakness, generalized weakness and areflexia. Genetic testing showed a variant of unknown significance in MTM1, raising concern for X-linked myotubular myopathy. Electrodiagnostic testing showed a rare myopathic MUP on EMG. Operative procedure: Muscle biopsy. ---- 1A1,2 H&E shows variation in muscle fiber size with many fibers, particularly smaller fibers, having one central internal nucleus in cross sections. Other small fibers have central clear regions. Some fibers have discrete borders and a more glassy cytoplasm in these images. There is no inflammation. (H&E)
