Malignant Hyperthermia, Susceptibility To, 3

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

RYR1, CACNA1S, STAC3, SCN4A, BIN1, EDAR, SCN5A, TRAF6, ELP1, CRLF1, ABCA12, CLCF1, HSPG2, MTMR14, TRAPPC9, KDF1, EDARADD, NALCN, MYF6, MYH3, CHRND, CHRNG, CHRNA1, DNM2, GCDH, RYR2, CASQ1, BCHE, RUNX2, SELENON, CBS, DMD, EPHA3, CBSL, MHS2, CACNA2D1, SNRNP27, SLC24A3, MEPE, EIF3K, CACNA1C, ATP2A1, H19, AICDA, GYPA, SPAG9, GYPB, MHS3, TRPV1, FLNA, QDPR, PRODH, ARVD3, KCNA1, IL6, HTR3A, GPI, HAL, GYPE, COL4A1

Drugs

Dantrolene sodium ( DANTRIUM )

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For a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 (145600).

By linkage studies in 3 families, Sudbrak et al. (1993) excluded linkage either to chromosome 19 or 17q, thus suggesting the existence of a third locus for malignant hyperthermia susceptibility.

In MHS families linked to neither chromosome 17 nor chromosome 19, Iles et al. (1994) found linkage with no recombination to markers flanking the CACNA2D1 gene (114204) on chromosome 7. Since this gene encodes a subunit of the L-type voltage-dependent calcium channel that is intimately associated at the skeletal muscle triadic junctions with the ryanodine receptor (RYR1; 180901), it is possible that the mutation is located in this gene. In affected members of a family linked to the MHS3 locus by Iles et al. (1994), Schleithoff et al. (1999) did not identify any pathogenic mutations in the coding region of the CACNA2D1 gene.