Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
SARCOGLYCAN DEFICIENCY IN A LARGE ITALIAN POPULATION OF MYOPATHIC PATIENTS
Autore:
PRELLE A; COMI GP; TANCREDI L; RIGOLETTO C; CISCATO P; FORTUNATO F; NESTI S; SCIACCO M; ROBOTTI M; BAZZI P; FELISARI G; MOGGIO M; SCARLATO G;
Indirizzi:
IRCCS,OSPED MAGGIORE POLICLIN,IST CLIN NEUROL,CTR DINO FERRARI,VIA F SFORZA 35 I-20122 MILAN ITALY IRCCS,IST SCI E MEDEA BOSISIO PARINI LECCO ITALY
Titolo Testata:
Acta Neuropathologica
fascicolo: 5, volume: 96, anno: 1998,
pagine: 509 - 514
SICI:
0001-6322(1998)96:5<509:SDIALI>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE MUSCULAR-DYSTROPHY; ALPHA-SARCOGLYCAN; BETA-SARCOGLYCAN; PRIMARY ADHALINOPATHY; GAMMA-SARCOGLYCAN; MUTATIONS; COMPLEX; GENE; GLYCOPROTEIN; MUSCLE;
Keywords:
LIMB-GIRDLE DYSTROPHY; SARCOGLYCAN COMPLEX; SARCOGLYCANOPATHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
A. Prelle et al., "SARCOGLYCAN DEFICIENCY IN A LARGE ITALIAN POPULATION OF MYOPATHIC PATIENTS", Acta Neuropathologica, 96(5), 1998, pp. 509-514

Abstract

Autosomal recessive limb-girdle muscular dystrophies are a heterogeneous group of genetic diseases with a wide spectrum of clinical severity and age of onset; mutations in the gene encoding the dystrophin-associated sarcoglycan proteins (alpha, beta, gamma and delta) have recently been shown to cause some cases of these myopathies (primary sarcoglycanopathies, types 2D, 2E, 2C and 2F, respectively). In this study wehave examined a large population of Italian myopathic patients to determine the frequency of alpha-, beta- and gamma-sarcoglycan deficiencyand to correlate molecular defects with clinical phenotypes; to exclude the presence of primary dystrophinopathies both genetic and immunological analysis of dystrophin was performed. We report 12 patients (10male and 2 female) with deficiency of either one or mon sarcoglycan proteins. They were aged 8-56 years with onset between 4 and 30 years of age; they all presented with either mild, moderate or severe limb-girdle involvement associated with elevated blood creatine kinase levelsand myopathic pattern at EMC; one was also affected with a mild dilation cardiomyopathy. All patients, except one, showed pathological muscle histological changes. Absence of all three proteins always cell-elates with severe forms, whereas mild protein deficiencies or isolated partial alpha-sarcoglycan deficiency correlate with either severe, moderate or mild forms.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 10:27:05