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Titolo:
FAILURE TO IDENTIFY THE RYANODINE RECEPTOR G1021A MUTATION IN A LARGENORTH-AMERICAN POPULATION WITH MALIGNANT HYPERTHERMIA
Autore:
STEWART SL; ROSENBERG H; FLETCHER JE;
Indirizzi:
ALLEGHENY UNIV HLTH SCI,DEPT ANESTHESIOL,MS 310 PHILADELPHIA PA 19102 ALLEGHENY UNIV HLTH SCI,DEPT ANESTHESIOL PHILADELPHIA PA 19102 THOMAS JEFFERSON UNIV,DEPT ANESTHESIOL PHILADELPHIA PA 19107
Titolo Testata:
Clinical genetics
fascicolo: 4, volume: 54, anno: 1998,
pagine: 358 - 361
SICI:
0009-9163(1998)54:4<358:FTITRR>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
MASSETER MUSCLE RIGIDITY; CENTRAL CORE DISEASE; RYR1 GENE; SKELETAL-MUSCLE; SUSCEPTIBILITY; HALOTHANE; SUBSTITUTION; FAMILIES; CAFFEINE; SEARCH;
Keywords:
DNA; GENETICS; MALIGNANT HYPERTHERMIA (MH); MH SUSCEPTIBILITY; MUTATIONS; RYR1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
S.L. Stewart et al., "FAILURE TO IDENTIFY THE RYANODINE RECEPTOR G1021A MUTATION IN A LARGENORTH-AMERICAN POPULATION WITH MALIGNANT HYPERTHERMIA", Clinical genetics, 54(4), 1998, pp. 358-361

Abstract

Anesthesia-induced malignant hyperthermia (MH) is a rare inherited disorder of skeletal muscle. Several mutations in the ryanodine receptor(RYR1) have been found to be causative of MH. The G1021A mutation in the RYR1 is one of the most frequently occurring mutations in Europeanpopulations. MH normal (165) and MH susceptible (114) North American patients were screened for the presence of the G1021A mutation. This mutation was not found in any of the patients tested. These studies support the absence of this mutation in the normal population. Furthermore, these findings emphasize the importance of viewing the distributionof MII mutations as variable gene pools with frequencies dependent onthe geographical location of the population examined.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 09:54:06