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Causative mutations have been identified in genes that can affect the synaptic function or structure. We identified a homozygous frameshift deletion c.127delC, p. Pro43fs in TOR1AIP1 in two siblings with limb-girdle weakness and impaired transmission at the neuromuscular synapse. TOR1AIP1 encodes the inner nuclear membrane protein lamin-associated protein 1. On muscle biopsy from the index case, lamin-associated protein 1 was absent from myonuclei. A mouse model with lamin-associated protein 1 conditionally knocked out in striated muscle was used to analyse the role of lamin-associated protein 1 in synaptic dysfunction. Model mice develop fatiguable muscle weakness as demonstrated by using an inverted screen hang test. Electromyography on the mice revealed a decrement on repetitive nerve stimulation. Ex vivo analysis of hemi-diaphragm preparations showed both miniature and evoked end-plate potential half-widths were prolonged which was associated with upregulation of the foetal acetylcholine receptor \u03b3 subunit. Neuromuscular junctions on extensor digitorum longus muscles were enlarged and fragmented, and the number of subsynaptic nuclei was significantly increased. Following these findings, electromyography was performed on cases of other nuclear envelopathies caused by mutations in LaminA\/C or emerin, but decrement on repetitive nerve stimulation or other indications of defective neuromuscular transmission were not seen. Thus, this report highlights the first nuclear membrane protein in which defective function can lead to impaired synaptic transmission.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaa174","type":"journal-article","created":{"date-parts":[[2020,10,18]],"date-time":"2020-10-18T08:34:59Z","timestamp":1603010099000},"source":"Crossref","is-referenced-by-count":26,"title":["Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission"],"prefix":"10.1093","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2323-622X","authenticated-orcid":false,"given":"Judith","family":"Cossins","sequence":"first","affiliation":[{"name":"Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Webster","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Maxwell","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro M","family":"Rodr\u00edguez Cruz","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK"},{"name":"Department of Clinical Neurology, John Radcliffe Hospital, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Knight","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurology, John Radcliffe Hospital, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John Gareth","family":"Llewelyn","sequence":"additional","affiliation":[{"name":"Neurology Department, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji-Yeon","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Medicine, Columbia University Medical Centre, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Palace","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurology, John Radcliffe Hospital, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9395-7132","authenticated-orcid":false,"given":"David","family":"Beeson","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,10,18]]},"reference":[{"key":"2020111211223676900_fcaa174-B1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.mcn.2008.12.011","article-title":"Truncated dystrophins can influence neuromuscular synapse structure","volume":"40","author":"Banks","year":"2009","journal-title":"Mol Cell Neurosci"},{"key":"2020111211223676900_fcaa174-B2","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2012.05.022","article-title":"Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates","volume":"91","author":"Belaya","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2020111211223676900_fcaa174-B3","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1093\/brain\/awv185","article-title":"Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies","volume":"138","author":"Belaya","year":"2015","journal-title":"Brain"},{"key":"2020111211223676900_fcaa174-B4","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/ng1294-323","article-title":"Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy","volume":"8","author":"Bione","year":"1994","journal-title":"Nat Genet"},{"key":"2020111211223676900_fcaa174-B5","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/s004240100561","article-title":"Adult dystrophic (mdx) endplates exhibit reduced quantal size and enhanced quantal variation","volume":"442","author":"Carlson","year":"2001","journal-title":"Pfl\u00fcgers Arch - 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