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

Research output: Contribution to journalReview articlepeer-review

4 Citations (Scopus)

Abstract

Rare pathogenic variants in TOR1AIP1 (OMIM 614512), coding the inner nuclear membrane protein lamin-associated protein 1 (LAP1), have been associated with a spectrum of disorders including limb girdle muscular dystrophy with cardiac involvement and a severe multisystem phenotype. Recently, Cossins et al reported two siblings with limb girdle muscular dystrophy and impaired transmission of the neuromuscular synapse, demonstrating that defective LAP1 may lead to a congenital myasthenic syndrome. Herein, we describe the association of TOR1AIP1 deficiency with congenital myasthenic syndrome in three siblings.

Original languageEnglish
Article numbere12743
JournalNeuropathology and Applied Neurobiology
Volume48
Issue number1
Early online date2022
DOIs
Publication statusPublished - Feb 2022

Fingerprint

Dive into the research topics of 'A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease'. Together they form a unique fingerprint.

Cite this