Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependent high-affinity choline transporter

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Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders caused by mutations in genes encoding proteins that are essential for neuromuscular transmission. There are currently more than 30 subtypes of CMS and they can be classified according to the location of the encoded protein into presynaptic, synaptic and postsynaptic disorders [1]. Until recently, most of the CMS described were postsynaptic in origin with a few being located to the synaptic space or the presynaptic terminal.

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