Gene: [19q131/RYR1] ryanodine receptor 1 (skeletal muscle; calcium release channel); Ca++ release channel of sarcoplasmic reticulum; malignant hyperthermia susceptibility 1 (King syndrome; MHS1; MIM:145600); central core disease of muscle (CCO; MIM:117000); [MHS1 CCO ]
|
FAG |
The homologous RYR genes have been mapped to Chr 1q4 (GEM:01q4/RYR2) and Chr 15q1 (GEM:15q1/RYR3)." |
|
CAG |
There are six genetic forms of MHS: MHS1, MHS2 (GEM:17q/MHS2), MHS3 (GEM:07q/CACNA2), MHS4 (GEM:03q131/MHS4), MHS5 (GEM:01q32/CACNA1S), and MHS6 (GEM:05p1/MHS6)." |
|
MUT |
Mutations in the RYR1 locus cause myopathy with postanesthetic malignant hyperthermia syndrome and myopathy with focal amorphic destruction of muscle fibers (central core disease of muscle)." |
|
PRO |
Gene-specific DNA probe pHRR-XH-1 is a 1001 bp fragment corresponding to the region of nucleotides 8550-9550 of RYR cDNA (Zorzato-1990) and cloned at XhoI/HindIII sites in the vector bluescript." |
|
POL |
BamHI A-RFLP: allele A1= duple 13.5+4.5 kb (popul freq= 0.25); A2= 18 kb/(0.75) (MacKenzie-1990; Probe 1)." |
|
MAP |
Loci: GEM:19q132/APOC2; GEM:19q133/CKM; GEM:19q133/DMPK.
[1] qc-RYR1-D19S8-D19S16-D19S37-APOC2-CKM-DMPK (MacKenzie-1990)." |
|
LIN |
[1] The MHS1 syndrome is also linked to cytochrome P450-IIA gene
(GEM:19q132/CYP2A6): the maximal lod score
at teta = 0.0 cM is 4.7
(McCarthy-1989) to 5.65 (McCarthy-1990).
[2] Linkage of MHS1 with the hormone-sensitive lipase gene (GEM:19q13/LIPE) is also assumed. This assumption is based on (1) disturbance of fatty acid metabolism in MHS and (2) data on linkage of MHS and hormone-sensitive lipase with the same markers." |
|
REF |
HIS,PAT,MEB "Afifi &: Neurology, 15, 371-381, 1965 MUT,PAT "Alestrom A &: Clin Genet, 47, 274-275, 1995 REV,LIN,LOC,HET "Ball SP, Johnson KJ: J Med Genet, 30, 89-93, 1993 HIS,PAT,MEB "Bethlem &: Brain, 89, 569-588, 1966 REV,PAT,PHE,MEB "Britt BA: Fed Proc, 38, 44-48, 1979 PAT,FOG "Byrne &: J Neurol Sci, 53, 77-83, 1982 MUT,PAT "Deufel T &: AJHG, 56, 1334-1342, 1995 REV,LIN,LOC,HET "Deufel T &: CCG, 58, 2018-2019, 1991 PAT,LIN "Eletcher &: Nature, 345, N6273, 297-298, 1990 PAT,PHE,MEB "Endo &: Biomed Res, 72, 862-873, 1983 REV,PAT,FOG "Eng &: Arch Neurol, 35, 189-197, 1978 HIS,PAT,MEB "Engel &: Brain, 84, 167-185, 1961 MUT,PAT "Fagerlund TH &: Clin Genet, 49, 186-188, 1996 MUT,PAT "Fagerlund TH &: Clin Genet, 48, 12-16, 1995 MUT,PAT "Fagerlund TH &: Clin Genet, 46, 401-404, 1994 REV,LIN,LOC,HET "Fagerlund TH &: Clin Genet, 41, 270-272, 1992 PAT,MEB,FOG,LIN "Frank &: Ann Neurol, 7, 11-17, 1980 PAT,MEB,FOG,LIN "Frank &: AJHG, 30, 51A, 1978 MUT,PAT "Fujii J &: Science, 253, 448-451, 1991 PAT,MEB,FOG,LIN "Gadoth &: Neuropaediatrie, 9, 239-244, 1978 PAT,MEB,FOG "Gamstorp &: Acta Paediatr Scand, 71, 881-886, 1982 POL,PEP,PAT "Gillard EF &: Genomics, 13, 1247-1254, 1992 MUT,PAT "Gillard EF &: Genomics, 11, 751-755, 1991 REV,PAT,PHE,MEB "Gronert GA: Anesthesiology, 53, 395-423, 1980 LOC,LIN,PAT "Healy JM &: Biochem Soc Trans, 18, N2, 326, 1990 MEB,FUN "Inui &: JBC, 262, 1740-1747, 1987 HIS,PAT,MEB "Isaacs &: J Neurol Neurosurg Psychiat, 38, 1177-1186, 1975 MUT,PAT "Keating KE &: Hum Mol Genet, 3, 1855-1858, 1994 MEB,FUN "Lai &: Nature, 331, 315-319, 1988 REV,LIN,LOC,HET "Levitt RC &: Genomics, 11, 543-547, 1991 LOC,CYG,LIN,POL "MacKenzie AE &: AJHG, 46, N6, 1082-1089, 1990 REV,LIN,LOC,HET "MacLennan DH, Phillips MS: Science, 256, 789-794, 1992 POL,MOL,LIN,PAT "MacLennan DH &: Nature, 343, N6258, 559-561, 1990 PAT,LIN "McCarthy TV &: Nature, 343, N6258, 562-563, 1990 PAT,LIN "McCarthy TV &: AJHG, 45, A150, 1989 PAT,PHE,MEB "McPherson, Taylor: Am J Med Genet, 11, 273-285, 1982 PAT,PHE,MEB "McPherson, Taylor: Am J Med Genet, 8, 159-165, 1981 MUT,PAT "Otsu K &: JBC, 269, 9413-9415, 1994 CLO,SEQ,GEN "Phillips MS &: Genomics, 34, 24-41, 1996 MUT,PAT "Quane KA &: Hum Mol Genet, 3, 471-476, 1994 MUT,PAT "Quane KA &: Nature Genet, 5, 51-55, 1993 LIN "Schwemmle S &: Genomics, 17, 205-207, 1993 IDN,PAT,PHE,HIS "Shy &: Ann Int Med, 56, 511-520, 1962 IDN,PAT,PHE,HIS "Shy, Magee: Brain, 79, 610-621, 1956 CLO,PEP,SEQ,MOP "Takeshima &: Nature, 339, 439-445, 1989 MEB,FUN "Wagenknecht &: Nature, 338, 167-170, 1989 POL "Wolz W &: CCG, 72, N2-3, 215-216, 1996 MUT,PAT "Zhang Y &: Nature Genet, 5, 46-50, 1993 CLO,SEQ,MOP,EVO "Zorzato F &: JBC, 265, 2244-2256, 1990 |
|
KEY |
recp, myo |
|
CLA |
coding, basic |
|
LOC |
19 q13.1 |
|
MIM |
MIM: 180901 |
|
SYN |
MHS1 CCO |
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