Treatment with salbutamol or with the cholinesterase inhibitor pyridostigmine is efficient in myasthenia gravis and in different CMS, and has been shown to improve muscle function in patients with TPM3-related congenital fibre type disproportion (CFTD) [22] and in patients with centronuclear myopathy (CNM) caused by DNM2, MTM1, or RYR1 mutations [9, 12, 29], and may therefore suggest a therapeutic option for severe ACTA1-related NM. Here, ACTA1 is linked to myasthenia gravis.