Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
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DOI: 10.1016/j.nmd.2020.07.009
Abstract: GMPPB mutations cause congenital myasthenic syndromes (CMS) overlapping with muscular dystrophy. Treatment with pyridostigmine has been reported to be effective in those patients. Nevertheless, results of functional motor assessments to determine its precise impact on… read more here.
Keywords: long term; congenital myasthenic; treatment; treatment pyridostigmine ... See more keywords