Neuromuscular Junction Dysfunction Is Not Always Myasthenic
A 39-year-old man presented with slowly progressive weakness predominantly affecting his upper limbs. Examination revealed non-fatigable ptosis, ophthalmoplegia, facial weakness, wasting of shoulder-girdle muscles, and limb contractures. Muscle biopsy was suggestive of centronuclear myopathy. Diagnosis was confirmed by genetic testing, which revealed a previously reported missense mutation in MTM1.
KeywordsMTM1 Myotubular myopathy Centronuclear myopathy
We thank Dr. Lokesh Wijesekera and Prof. Martin Koltzenburg for allowing us to use the results and illustrations of their neurophysiological study.