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Titolo:
Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alpha beta-cristallin gene
Autore:
Fardeau, M; Vicart, P; Caron, A; Chateau, D; Chevallay, M; Collin, H; Chapon, F; Duboc, D; Eymard, B; Tome, FMS; Dupret, JM; Paulin, D; Guicheney, P;
Indirizzi:
Hop La Pitie Salpetriere, INSERM, U523, Paris, France Hop La Pitie Salpetriere Paris France iere, INSERM, U523, Paris, France Hop La Pitie Salpetriere, Inst Myol, Paris, France Hop La Pitie Salpetriere Paris France etriere, Inst Myol, Paris, France CHU Pitie Salpetriere, CNRS, URA 2115, Paris, France CHU Pitie Salpetriere Paris France riere, CNRS, URA 2115, Paris, France CHU Cote Nacre, Neuropathol Lab, Caen, France CHU Cote Nacre Caen France HU Cote Nacre, Neuropathol Lab, Caen, France Hop Robert Debre, INSERM 458, F-75019 Paris, France Hop Robert Debre Paris France F-75019 INSERM 458, F-75019 Paris, France Univ Paris 07, Lab Biol Mol Differenciat, Paris, France Univ Paris 07 Paris France 07, Lab Biol Mol Differenciat, Paris, France
Titolo Testata:
REVUE NEUROLOGIQUE
fascicolo: 5, volume: 156, anno: 2000,
pagine: 497 - 504
SICI:
0035-3787(200005)156:5<497:FMWDSS>2.0.ZU;2-U
Fonte:
ISI
Lingua:
FRE
Soggetto:
HEREDITARY DISTAL MYOPATHY; INTERMEDIATE FILAMENTS; B-CRYSTALLIN; SKELETAL-MUSCLE; CARDIOMYOPATHY; ACCUMULATION; NETHERLANDS; MICROSCOPY; INCLUSIONS; DYSTROPHIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Fardeau, M Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, Bat J Babinski,47 Blvd Hop, F-75651 Paris 13, France Grp Hosp Pitie Salpetriere Bat JBabinski,47 Blvd Hop Paris France 13
Citazione:
M. Fardeau et al., "Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alpha beta-cristallin gene", REV NEUROL, 156(5), 2000, pp. 497-504

Abstract

Two familial cases of a myopathy remarkable by the presence of a granulo-filamentar, electron dense material were reported in 1978. In a second step,in 1988, it was demonstrated that this material contained an abnormally-phosphorylated desmin. During the last twenty years, the occurrence of new cases in this family confirmed the autosomal dominant inheritance of the disease, and made it potentially informative for molecular genetics studies. This allowed first to map the disease on chromosome 11q21-23, and afterwards to identify a mutation within a gene coding for a chaperone protein, alpha B crystallin. An extensive clinical, pathological and genetic study of this princeps family is herein reported in detail. First, it showed the possible detection of histopathological changes in presymptomatic patients. Second, it allowed to demonstrate the simultaneous occurrence of both alpha B crystallin and desmin in the granulo-filamentar aggregates. Third, this study provided a precise knowledge of the evolution rate of the disease. The analysis of similar observations reported in the literature clearly shows the clinical, pathological and genetic heterogeneity of this new neuro-muscular disorder.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 03:30:00