Article
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.
Neuropathology and applied neurobiology - 1 Feb 2022
Malfatti Edoardo, Catchpool Tara, Nouioua Sonia, Sihem Hellal, Fournier Emmanuel, Carlier Robert Y, Cardone Nastasia, Davis Mark R, Laing Nigel G, Sternberg Damien, Ravenscroft Gianina
Abstract excerpt
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...
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