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Titolo:
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia
Autore:
Stewart, SL; Hogan, K; Rosenberg, H; Fletcher, JE;
Indirizzi:
Georgetown Univ, Dept Oncol, Washington, DC 20007 USA Georgetown Univ Washington DC USA 20007 t Oncol, Washington, DC 20007 USA Univ Wisconsin, Dept Anesthesiol, Madison, WI USA Univ Wisconsin Madison WI USA sconsin, Dept Anesthesiol, Madison, WI USA Thomas Jefferson Univ, Dept Anesthesiol, Philadelphia, PA 19107 USA ThomasJefferson Univ Philadelphia PA USA 19107 hiladelphia, PA 19107 USA Trinity Commun, Conshohocken, PA USA Trinity Commun Conshohocken PA USATrinity Commun, Conshohocken, PA USA
Titolo Testata:
CLINICAL GENETICS
fascicolo: 3, volume: 59, anno: 2001,
pagine: 178 - 184
SICI:
0009-9163(200103)59:3<178:IOTAMI>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
MASSETER MUSCLE RIGIDITY; HUMAN SKELETAL-MUSCLE; RYANODINE-RECEPTOR; SODIUM-CHANNEL; RYR1 GENE; PAGET-DISEASE; SUSCEPTIBILITY; HALOTHANE; HETEROGENEITY; SUBSTITUTION;
Keywords:
CACNA1S; DHPR; DNA; genetics; malignant hyperthermia; MH susceptibility; mutations; RYR1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Stewart, SL Georgetown Univ, Dept Oncol, 3970 Reservoir Rd NW,Res Bldg,W305, Washington, DC 20007 USA Georgetown Univ 3970 Reservoir Rd NW,Res Bldg,W305 Washington DC USA 20007
Citazione:
S.L. Stewart et al., "Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia", CLIN GENET, 59(3), 2001, pp. 178-184

Abstract

Individuals from a large North American population were screened for the presence of the mutation in the alpha (1) subunit of the voltage-dependent calcium channel (CACNA1S) that has recently been associated with malignant hyperthermia (MH). This Arg1086His mutation was screened for in 154 MH normal (MHN) individuals and 112 MH susceptible (MHS) individuals, who were diagnosed by the North American protocol of the in vitro contracture test. PCR and restriction enzyme analysis was used to test for the mutation. The Arg1086His mutation in the CACNA1S was not found in any of the MI-IN individuals. In contrast, two related individuals (grandfather and grandson, father and son of the MH proband) among the MI-IS group exhibited this mutation. However, a third MHS individual in the same family (granddaughter, cousin of the grandson) did not exhibit this mutation. These results indicate that this mutation may be associated with MH in this family. Genetic alterations in the CACNA1S associated with MH are present in approximately 1% of this North American MHS population.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/20 alle ore 12:28:52