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Titolo:
Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments
Autore:
Sanoudou, D; Beggs, AH;
Indirizzi:
Childrens Hosp, Div Genet, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 Hosp, Div Genet, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Paediat, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 Med, Dept Paediat, Boston, MA 02115 USA
Titolo Testata:
TRENDS IN MOLECULAR MEDICINE
fascicolo: 8, volume: 7, anno: 2001,
pagine: 362 - 368
SICI:
1471-4914(200108)7:8<362:CAGHIN>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
IN-SITU HYBRIDIZATION; CONGENITAL MYOPATHY; RYANODINE RECEPTOR; SARCOMERIC PROTEIN; INTRANUCLEAR RODS; MUTATION; ASSIGNMENT; BAND; INVOLVEMENT; NEBULIN;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Sanoudou, D Childrens Hosp, Div Genet, 300 Longwood Ave, Boston, MA 02115 USA Childrens Hosp 300 Longwood Ave Boston MA USA 02115 02115 USA
Citazione:
D. Sanoudou e A.H. Beggs, "Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments", TRENDS MO M, 7(8), 2001, pp. 362-368

Abstract

The term nemaline myopathy (NM) encompasses a heterogeneous group of disorders of primary skeletal muscle weakness characterized by the presence of nemaline rods in muscles of affected individuals. Disease severity is variable and unpredictable, with prognosis ranging from neonatal death to almost normal motor function. Recent advances in the identification of NM disease genes demonstrate that NM is a disease of the skeletal muscle sarcomere and, in particular, of the thin filaments. These findings are starting to alter the approach that neurologists and geneticists take to diagnosing and counseling patients with NM, and could lead to insights into specific directedtherapies in the future.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 17:52:15