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Titolo:
DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY
Autore:
TOSCANO A; VITIELLO L; COMI GP; GALVAGNI F; MIORIN M; PRELLE A; FORTUNATO F; BARDONI A; MORA M; FIUMARA A; FALSAPERLA R; TOMELLERI G; TONIN P; DANIELI GA; VITA G;
Indirizzi:
UNIV MESSINA POLICLIN,NEUROL CLIN 2 I-98125 MESSINA ITALY UNIV MESSINA POLICLIN,NEUROL CLIN 2 I-98125 MESSINA ITALY UNIV PADUA,DEPT BIOL PADUA ITALY UNIV MILAN,INST CLIN NEUROL MILAN ITALY IST NEUROCHIRURG C BESTA,DIV NEUROMUSCULAR DISORDERS MILAN ITALY UNIV CATANIA,INST PEDIAT CATANIA ITALY UNIV VERONA,INST NEUROL I-37100 VERONA ITALY
Titolo Testata:
Neuromuscular disorders
fascicolo: 6, volume: 5, anno: 1995,
pagine: 475 - 481
SICI:
0960-8966(1995)5:6<475:DODGAD>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
BECKER MUSCULAR-DYSTROPHY; DMD GENE; MOLECULAR-BASIS; BLOT ANALYSIS; DUCHENNE; DELETIONS; PROTEIN; MILD; VARIABILITY; FREQUENCY;
Keywords:
BECKER MUSCULAR DYSTROPHY; DYSTROPHIN; XP21 GENE DUPLICATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
A. Toscano et al., "DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY", Neuromuscular disorders, 5(6), 1995, pp. 475-481

Abstract

We report here three related patients with a duplication of exons 19-41 of the dystrophin gene, having dissimilar clinical phenotype and dystrophin immunohistochemistry. Two brothers aged six and three years had myalgia, proximal muscular weakness and hypertrophic calves, with 10- to 20-fold increase of serum creatine kinase. Muscle biopsy showed dystrophic changes and reduced, patchy binding of dystrophin. The clinical and laboratory findings were consistent with a diagnosis of Becker muscular dystrophy with early onset. Their 14-year-old cousin had only mild hyperCKemia. His muscle biopsy was normal with only mild reduction of dystrophin immunostaining. At follow-up, he is still without symptoms and signs at age 19. All three patients had the same gene duplication and an increased dystrophin size of 507 kDa, Expression of thedystrophin-associated glycoproteins adhalin, alpha-dystroglycan, and beta-dystroglycan were normal in the three patients. An intrafamilial variability in patients carrying a partial duplication of the dystrophin gene may be related to a quantitative difference in mRNA.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 16:00:01