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Titolo:
EMERY-DREIFUSS MUSCULAR-DYSTROPHY WITH UNUSUAL FEATURES
Autore:
DEYMEER F; OGE AE; BAYINDIR C; KAYMAZ C; NISANCI Y; ADALET K; YATES JRW; OZDEMIR C;
Indirizzi:
ISTANBUL UNIV,SCH MED,DEPT NEUROL,CAPA 34390 ISTANBUL TURKEY ISTANBUL UNIV,DEPT CARDIOL ISTANBUL TURKEY ADDENBROOKES HOSP,DEPT CLIN GENET CAMBRIDGE CB2 2QQ ENGLAND
Titolo Testata:
Muscle & nerve
fascicolo: 12, volume: 16, anno: 1993,
pagine: 1359 - 1365
SICI:
0148-639X(1993)16:12<1359:EMWUF>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONTRACTURES; LINKAGE; GENE;
Keywords:
EMERY-DREIFUSS DYSTROPHY; SCAPULOPERONEAL SYNDROME; X-LINKED MUSCULAR DYSTROPHY; MUSCLE CONTRACTURES; ATRIAL ARREST;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
F. Deymeer et al., "EMERY-DREIFUSS MUSCULAR-DYSTROPHY WITH UNUSUAL FEATURES", Muscle & nerve, 16(12), 1993, pp. 1359-1365

Abstract

Two families with Emery-Dreifuss muscular dystrophy (EMD) are described. Several unusual features for EMD are emphasized. One of the patients had severe neuromuscular disability with inability to walk during early childhood. This patient also had mild bifacial paresis. His brothers had the typical slow progression of EMD. In some of the patients, muscle weakness distribution was more widespread than has usually beenreported, with prominent involvement of finger extensors. It is suggested that there is a wide phenotypic spectrum in EMD. In both families, the disease segregated with markers spanning the EMD locus in Xq28. (C) 1993 John Wiley & Sons, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 07:39:07