Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT
Autore:
ANGELINI C; FANIN M; MENEGAZZO E; FREDA MP; DUGGAN DJ; HOFFMAN EP;
Indirizzi:
UNIV PADUA,NEUROMUSCULAR CTR,DEPT NEUROL,GIUSTINIANI 5 I-35128 PADUA ITALY UNIV PITTSBURGH,DEPT MOL GENET & BIOCHEM PITTSBURGH PA 00000
Titolo Testata:
Muscle & nerve
fascicolo: 6, volume: 21, anno: 1998,
pagine: 769 - 775
SICI:
0148-639X(1998)21:6<769:HAMI2S>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
ADHALIN DEFICIENCY; GAMMA-SARCOGLYCAN; BETA-SARCOGLYCAN; GENE-MUTATIONS; MISSENSE MUTATIONS; COMPLEX;
Keywords:
ALPHA-SARCOGLYCAN; SARCOGLYCAN COMPLEX; LIMB-GIRDLE MUSCULAR DYSTROPHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
C. Angelini et al., "HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT", Muscle & nerve, 21(6), 1998, pp. 769-775

Abstract

We describe a couple of siblings who have a homozygous mutation in the alpha-sarcoglycan gene and present a striking clinical difference intheir phenotype; the brother is asymptomatic, and the sister is affected with mild limb-girdle muscular dystrophy. Drug therapy with a new steroid (deflazacort) was done over 6 months in the mild limb-girdle patient, and we observed objective benefit in muscle strength and in functional tests. Side effects were minimal. Immunohistochemistry for alpha-sarcoglycan showed reduced intensity of reaction in the limb-girdle dystrophy patient and was similar to normal in the asymptomatic case. A reduced amount of residual alpha-sarcoglycan protein level was found in their muscle biopsies. Unknown epigenetic or environmental factors may have an important role in determining protein and clinical phenotype expression. This is the first report of a patient with homozygous sarcoglycan gene mutation without overt muscle weakness in his adulthood. The spectrum of clinical phenotypes in sarcoglycanopathies is therefore wider than previously thought. (C) 1998 John Wiley & Sons, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 01:30:21