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• W2045441794 abstract "Mutations in the RYR1 gene are associated with Malignant Hyperthermia susceptibility and Central Core Myopathy (CCD). Recently, a de novo dominant RYR1 mutation was found in a sporadic case of Centronuclear Myopathy (CNM). CNMs are congenital muscle diseases characterized by the presence of enlarged centrally located myonuclei surrounded by a halo of disorganized cytoplamic organnelles in muscle fibres. Mutations in the MTM1, DNM2 and BIN1 genes are implicated in the very severe X-linked, AD and AR milder forms, respectively. Here, we analysed Brazilian patients with CNM for mutations in the RYR1 gene. PCR amplification, SSCP and dHPLC methodologies followed by sequencing of exons were used for the more frequently mutated exons of the RYR1 gene. We analysed 9 patients with CNM, previously excluded for mutations in the MTM1 and DNM2 genes, and 4 patients with CNM caused by mutations in the DNM2 gene. We identified several described polymorphisms and some new mutations in at least 5 among the 9 studied families, and in one DNM2–CNM patient. This calls our attention to the possible modifying role of polymorphisms in the RYR1 gene in the myopathic phenotype. An abnormal calcium release mechanism would interfere with the effect of a second pathogenic mutation causing congenital myopathy. The proteins myotubularin and Dynamin2 have been implicated in membrane traffic, regulating the movement of vesicles from the endosome to the lysosome, and as a part of the cellular fusion-fission of cellular membrane. The activity of Dynamin1, which regulates synaptic vesicle recycling, is specifically decreased by binding to Ca++. The elucidation of the role of Ca++ in the function of Dynamin2 in muscle will probably bring new insight to explain the great clinical variability observed in these patients. Financial support: FAPESP-CEPID, CNPq, ABDIM." @default.
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• W2045441794 date "2008-10-01" @default.
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• W2045441794 title "G.P.13.10 High frequency of polymorphisms in the RYR1 gene in Brazilian patients with centronuclear myopathy" @default.
• W2045441794 doi "https://doi.org/10.1016/j.nmd.2008.06.295" @default.
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