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.


MTM1 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.


  1. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol. 2005;64:555–64.CrossRefPubMedGoogle Scholar

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© Springer-Verlag London Ltd. 2017

Authors and Affiliations

  1. 1.MRC Centre for Neuromuscular Disease, National Hospital for Neurology and NeurosurgeryLondonUK

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