A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease

Edoardo Malfatti, Tara Catchpool, Sonia Nouioua, Hellal Sihem, Emmanuel Fournier, Robert Y. Carlier, Nastasia Cardone, Mark R. Davis, Nigel G. Laing, Damien Sternberg, Gianina Ravenscroft

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