Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Inherited skeletal muscle disorders
Autore:
Laing, NG; Mastaglia, FL;
Indirizzi:
Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Nedlands, WA 6009, Australia Univ Western Australia Nedlands WA Australia 6009 nds, WA 6009, Australia
Titolo Testata:
ANNALS OF HUMAN BIOLOGY
fascicolo: 6, volume: 26, anno: 1999,
pagine: 507 - 525
SICI:
0301-4460(199911/12)26:6<507:ISMD>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
GIRDLE MUSCULAR-DYSTROPHY; TRINUCLEOTIDE REPEAT EXPANSION; RECESSIVE NEMALINE MYOPATHY; RYANODINE RECEPTOR GENE; CENTRAL CORE DISEASE; MYOTONIC-DYSTROPHY; MALIGNANT HYPERTHERMIA; DISTAL MYOPATHY; HUMAN GENOME; SARCOGLYCAN COMPLEX;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
102
Recensione:
Indirizzi per estratti:
Indirizzo: Laing, NG Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, 4th Floor,A Block, Nedlands, WA 6009, Australia UnivWestern Australia 4th Floor,A Block Nedlands WA Australia 6009
Citazione:
N.G. Laing e F.L. Mastaglia, "Inherited skeletal muscle disorders", ANN HUM BIO, 26(6), 1999, pp. 507-525

Abstract

The field of inherited skeletal muscle disease research has advanced rapidly since the identification of mutations in the dystrophin gene as the cause of Duchenne muscular dystrophy in 1987. From that point, an ever-increasing number of the genes associated with inherited muscle diseases have been identified. These discoveries have led to much more accurate diagnosis of the individual diseases and have allowed prenatal diagnosis where this was not previously possible. The major challenges for the future are to understand the pathophysiology of the diseases, now that the genes are being identified, and then to develop successful therapies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 10:34:19