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There are now over 30 causative genes that have been reported for CMS. Of these, there are 10 that are associated with a limb\u2010girdle pattern of muscle weakness and are thus classed as LG\u2010CMS. Next\u2010generation sequencing and advanced methods of data sharing are likely to uncover further genes that are associated with similar clinical phenotypes, contributing to better diagnosis and effective treatment of LG\u2010CMS patients. This review highlights clinical and pathological hallmarks of LG\u2010CMS in relation to the underlying genetic defects and pathways. Tailored animal and cell models are essential to elucidate the exact function and pathomechanisms at the neuromuscular synapse that underlie LG\u2010CMS. The integration of genomics and proteomics data derived from these models and patients reveals new and often unexpected insights that are relevant beyond the rare genetic disorder of LG\u2010CMS and may extend to the functioning of mammalian synapses in health and disease more generally.<\/jats:p>","DOI":"10.1111\/nyas.13520","type":"journal-article","created":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T01:31:25Z","timestamp":1515547885000},"page":"102-112","source":"Crossref","is-referenced-by-count":18,"title":["Clinical and research strategies for limb\u2010girdle congenital myasthenic syndromes"],"prefix":"10.1111","volume":"1412","author":[{"given":"Emily","family":"O'Connor","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9 P.","family":"Zahedi","sequence":"additional","affiliation":[{"name":"Leibniz\u2010Institut f\u00fcr Analytische Wissenschaften ISAS e.V.  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