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Titolo:
GENOTYPE-PHENOTYPE CORRELATIONS OF DHP RECEPTOR ALPHA(1)-SUBUNIT GENE-MUTATIONS CAUSING HYPOKALEMIC PERIODIC PARALYSIS
Autore:
FOUAD G; DALAKAS M; SERVIDEI S; MENDELL JR; VANDENBERGH P; ANGELINI C; ALDERSON K; GRIGGS RC; TAWIL R; GREGG R; HOGAN K; POWERS PA; WEINBERG N; MALONEE W; PTACEK LJ;
Indirizzi:
UNIV UTAH,DEPT NEUROL SALT LAKE CITY UT 84112 UNIV UTAH,DEPT NEUROL SALT LAKE CITY UT 84112 UNIV UTAH,DEPT HUMAN GENET SALT LAKE CITY UT 84112 UNIV UTAH,PROGRAM HUMAN MOL BIOL & GENET SALT LAKE CITY UT 84112 NINCDS,NIH BETHESDA MD 20892 UNIV CATTOLICA SACRO CUORE,FAC MED & CHIRURG AGOSTINO GEMELLI ROME ITALY OHIO STATE UNIV,DEPT NEUROL COLUMBUS OH 43210 UNIV BRUSSELS,CLIN ST LUC,SERV NEUROL BRUSSELS BELGIUM UNIV PADUA PADUA ITALY NEUROMUSCULAR ASSOCIATES INC SALT LAKE CITY UT 84112 UNIV ROCHESTER,MED CTR,NEUROMUSCULAR DIS CTR ROCHESTER NY 14642 UNIV WISCONSIN,WAISMAN CTR MENTAL RETARDAT & HUMAN DEV MADISON WI 53706 UNIV WISCONSIN,WILLIAM S MIDDLETON MEM VET HOSP MADISON WI 53706 UNIV WISCONSIN,DEPT ANESTHESIOL MADISON WI 53706 PEDIAT HLTH CARE ASSOCIATES YPSILANTI MI 48197 HUTCHINSON CLIN HUTCHINSON KS 00000
Titolo Testata:
Neuromuscular disorders
fascicolo: 1, volume: 7, anno: 1997,
pagine: 33 - 38
SICI:
0960-8966(1997)7:1<33:GCODRA>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
PARAMYOTONIA-CONGENITA; CALCIUM; FAMILIES; HYPOPP;
Keywords:
HYPOKALEMIC PERIODIC PARALYSIS; MUSCLE WEAKNESS; MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
G. Fouad et al., "GENOTYPE-PHENOTYPE CORRELATIONS OF DHP RECEPTOR ALPHA(1)-SUBUNIT GENE-MUTATIONS CAUSING HYPOKALEMIC PERIODIC PARALYSIS", Neuromuscular disorders, 7(1), 1997, pp. 33-38

Abstract

Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant or sporadic disorder characterized by periodic, reversible attacks of muscle weakness. Mutations in the skeletal muscle dihydropyridine receptor alpha(1)-subunit that functions as a calcium channel (CACNLIA3) cause hypoKPP. We studied a group of 45 hypoKPP probands and demonstrated mutations in 30 of them. When compared with patients in whom CACNL1A3 mutations were not identified, those with mutations had an earlier ageof onset and more often had a family history of hypoKPP. To date, three mutations have been identified. The R1239G mutation has only been found in one family. Of the 30 probands with recognized mutations, R528H accounted for 43% and R1239H was seen in 53%. Age of onset and potassium levels during attacks were lower in patients with the R1239H mutation than those with R528H. Cardiac dysrhythmias co-segregated with hypoKPP in one small kindred with the R528 H mutation. No mutations wereidentified in exons of the gene encoding the S4 segments of domains one and three or the cytoplasmic loop between domains two and three. Inaddition to the 45 hypoKPP probands, an additional 11 probands with clinical variants of hypoKPP (three thyrotoxic hypoKPP and eight Andersen syndrome patients) were examined for CACNLIA3 mutations and none were found. (C) 1997 Elsevier Science B.V.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 12:54:25