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Washington University Experience | MUSCLE | Neuromuscular Junction | 2A1 (Case 2) Muscle EM005 - Copy

Case 2 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. ---- 2A1-4 Progressive increasing magnification of this NMJ shows similar junctional folds, a nerve terminal with mitochondria and an overlying Schwann cell. (electron micrographs)

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