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    KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

    Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Ne...

    D. Natera-de Benito, A. Nascimento, A. Abicht, C. Ortez, C. Jou… in Journal of Neurology (2016)