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Titolo:
NEUROLOGICAL ASPECTS OF MALIGNANT HYPERTH ERMIA - CLINIC, PATHOPHYSIOLOGY, GENETICS
Autore:
SERRATRICE G; KOZAKRIBBENS G; COZZONE PJ;
Indirizzi:
CHU TIMONE,SERV NEUROL & MALADIES NEUROMUSCULAIRES,1 CHEM ARMEE AFRIQUE F-13005 MARSEILLE FRANCE CTR RESONANCE MAGNET BIOL & MED,FAC MED MARSEILLE FRANCE
Titolo Testata:
Revue neurologique
fascicolo: 5, volume: 153, anno: 1997,
pagine: 304 - 313
SICI:
0035-3787(1997)153:5<304:NAOMHE>2.0.ZU;2-H
Fonte:
ISI
Lingua:
FRE
Soggetto:
CENTRAL-CORE DISEASE; MAGNETIC-RESONANCE SPECTROSCOPY; MASSETER MUSCLE RIGIDITY; RYANODINE RECEPTOR GENE; CONTRACTURE TEST; SUSCEPTIBILITY LOCUS; PERIODIC PARALYZES; HYPERPYREXIA; RHABDOMYOLYSIS; MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
59
Recensione:
Indirizzi per estratti:
Citazione:
G. Serratrice et al., "NEUROLOGICAL ASPECTS OF MALIGNANT HYPERTH ERMIA - CLINIC, PATHOPHYSIOLOGY, GENETICS", Revue neurologique, 153(5), 1997, pp. 304-313

Abstract

Malignant hyperthermia, a disease formerly considered to occur almostexclusively in an anesthesia setting, has been observed in wider contexts due to progress in screening tests and genetics. Different neurological and neuromuscular conditions, with and even without hyperthermia. have been considered to belong to the disease, including overt or infraclinical signs of myopathies, and most significantly central core disease. Exercise-induced malignant hyperthermia is another similar syndrome as are syndromes with isolated exercise intolerance in young subjects, certain rhabdomyolysis syndromes and certain cases of sudden infants death syndrome. The pathophysiological mechanism would involve excessive calcium release from the sarcoplasmic reticulum caused by a protein structure anomaly in the ryanodin receptor, a non-energy dependent channel. Genetic studies have localized the ryanodin receptor gene anomaly on chromosome 19 in man in 30 to 40 p. 100 of the families. Other mutations with other chromosomic localizations are however known. Management of suspected malignant hyperthermia includes muscle biopsy and well-defined contraction tests.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 09:13:36