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Titolo:
KING SYNDROME - FURTHER CLINICAL VARIABILITY AND REVIEW OF THE LITERATURE
Autore:
GRAHAM GE; SILVER K; ARLET V; KALOUSTIAN VMD;
Indirizzi:
MONTREAL CHILDRENS HOSP,DIV MED GENET,F CLARK FRASER CLIN GENET UNIT,ROOM A-608,2300 TUPPER ST MONTREAL PQ H3H 1P3 CANADA MONTREAL CHILDRENS HOSP,DIV MED GENET,F CLARK FRASER CLIN GENET UNIT MONTREAL PQ H3H 1P3 CANADA MCGILL UNIV,DEPT HUMAN GENET MONTREAL PQ CANADA MONTREAL CHILDRENS HOSP,DIV NEUROL MONTREAL PQ H3H 1P3 CANADA MCGILL UNIV,DEPT NEUROL MONTREAL PQ H3A 2T5 CANADA MONTREAL CHILDRENS HOSP,DIV ORTHOPED MONTREAL PQ H3H 1P3 CANADA MCGILL UNIV,DEPT ORTHOPED MONTREAL PQ CANADA
Titolo Testata:
American journal of medical genetics
fascicolo: 3, volume: 78, anno: 1998,
pagine: 254 - 259
SICI:
0148-7299(1998)78:3<254:KS-FCV>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
MALIGNANT HYPERTHERMIA; NOONAN SYNDROME; HYPERPYREXIA; PHENOTYPE; MYOPATHY;
Keywords:
KING SYNDROME; NOONAN SYNDROME; MALIGNANT HYPERTHERMIA; MYOPATHY; REVIEW;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
G.E. Graham et al., "KING SYNDROME - FURTHER CLINICAL VARIABILITY AND REVIEW OF THE LITERATURE", American journal of medical genetics, 78(3), 1998, pp. 254-259

Abstract

The King syndrome is characterized by a Noonan-like phenotype, the presence of a nonspecific myopathy and a predisposition to malignant hyperthermia. In some families, mild physical manifestations of the phenotype and/or elevated serum creatine phosphokinase (CPK) in relatives suggest the presence of an autosomal dominant myopathy with variable expressivity, We summarize the cases of 14 previously reported patients and describe a new patient, a 7-year-old girl, with the King syndrome and the unique findings of diaphragmatic eventration, tethered spinal cord, and severe paucity of type 2 skeletal muscle fibers. It has beenproposed that the King syndrome represents a common phenotype that may result from several different slowly progressive congenital myopathies, This hypothesis, and the phenotypic overlap between the King and Noonan syndromes are discussed in light of the findings in this new patient, (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 07:57:41