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Article

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.

Journal of neuromuscular diseases - 1 Jan 2023

Pugliese Alessia, Holland Stephen H, Rodolico Carmelo, Lochmüller Hanns, Spendiff Sally

Abstract excerpt

Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a dysfunction in acetylcholine (ACh) synthesis or recycling, in its packaging into synaptic vesicles, or its subsequent release into the synaptic cleft. Other proteins involved in presynaptic endplate development and maintenance can also be...

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Identifiers

PMID: 37212067
DOI: 10.3233/JND-221646
PMCID: PMC10578258

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