{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T01:17:55Z","timestamp":1787793475975,"version":"build-2784847793"},"reference-count":21,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:p>A novel single-nucleotide deletion in exon 100 of the RYR1 gene, corresponding to deletion of nucleotide 14 510 in the human RyR1 mRNA (c14510delA), was identified in a man with malignant hyperthermia and in his two daughters who were normal for malignant hyperthermia. This deletion results in a RyR1 protein lacking the last 202 amino acid residues. All three subjects heterozygotic for the mutated allele presented with a prevalence of type 1 fibres with central cores, although none experienced clinical signs of myopathy. Expression of the truncated protein resulted in non-functional RYR1 calcium release channels. Expression of wild-type and RyR1<jats:sup>R4836fsX4838<\/jats:sup> proteins resulted in heterozygotic release channels with overall functional properties similar to those of wild-type RyR1 channels. Nevertheless, small differences in sensitivity to calcium and caffeine were observed in heterotetrameric channels, which also presented an altered assembly\/stability in sucrose-gradient centrifugation analysis. Altogether, these data suggest that altered RYR1 tetramer assembly\/stability coupled with subtle chronic changes in Ca<jats:sup>2+<\/jats:sup> homoeostasis over the long term may contribute to the development of core lesions and incomplete malignant hyperthermia susceptibility penetrance in individuals carrying this novel RYR1 mutation.<\/jats:p>","DOI":"10.1136\/jmg.2006.043794","type":"journal-article","created":{"date-parts":[[2007,2,9]],"date-time":"2007-02-09T13:23:09Z","timestamp":1171027389000},"page":"e67-e67","source":"Crossref","is-referenced-by-count":11,"title":["A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres"],"prefix":"10.1136","volume":"44","author":[{"given":"Daniela","family":"Rossi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"De 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