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Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital myasthenic syndromes (CMS). We describe three children whose clinical and electrophysiological findings originally suggested CMS, in whom CNM was diagnosed pathologically, though not yet genetically characterised. A fourth case, with XLMTM, also showed electrophysiological features of a neuromuscular transmission defect. Three (including the XLMTM case) showed improved strength with acetylcholinesterase inhibitor treatment. We also studied neuromuscular junction structure and function in the MTM1 knockdown zebrafish model of XLMTM, demonstrating abnormal neuromuscular junction organization; anticholinesterase therapy resulted in marked clinical response. These observations suggest that a neuromuscular transmission defect may accompany CNM and contribute to muscle weakness. Muscle biopsy should be considered in infants suspected to have CMS, especially if treatment response is incomplete, or no CMS gene mutation is identified. Treatment with acetylcholinesterase inhibitors may benefit some CNM patients. This warrants further confirmation.

Original publication

DOI

10.1016/j.nmd.2011.02.012

Type

Journal article

Journal

Neuromuscul Disord

Publication Date

06/2011

Volume

21

Pages

379 - 386

Keywords

Adolescent, Animals, Biopsy, Child, Cholinesterase Inhibitors, Disease Models, Animal, Electromyography, Female, Gene Knockout Techniques, Humans, Infant, Male, Muscle, Skeletal, Myopathies, Structural, Congenital, Neuromuscular Junction, Protein Tyrosine Phosphatases, Non-Receptor, Pyridostigmine Bromide, Synaptic Transmission, Treatment Outcome, Zebrafish, Zebrafish Proteins