Malignant Hyperthermia, Susceptibility To, 4

Watchlist

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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).

Mapping

In a single German pedigree with classic malignant hyperthermia, Sudbrak et al. (1995) found a maximum multipoint lod score of 3.22 for linkage to markers defining a 1-cM interval on 3q13.1. The malignant hyperthermia phenotype was determined by the in vitro contracture test (IVCT) performed on a sample of freshly obtained muscle.