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Titolo:
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS)
Autore:
Otto, LR; Boriack, RL; Marsh, DJ; Kum, JB; Eng, C; Burlina, AB; Bennett, MJ;
Indirizzi:
Childrens Med Ctr, Dept Pathol, Dallas, TX 75235 USA Childrens Med Ctr Dallas TX USA 75235 , Dept Pathol, Dallas, TX 75235 USA Harvard02115, Sch Med, Dana Farber Canc Inst, Translat Res Lab, Boston, MAHarvard Univ Boston MA USA 02115 Canc Inst, Translat Res Lab, Boston, MA Univ Padua, Dept Pediat, Padua, Italy Univ Padua Padua ItalyUniv Padua, Dept Pediat, Padua, Italy Univ Texas, SW Med Ctr, Dept Pathol, Dallas, TX USA Univ Texas Dallas TX USA Texas, SW Med Ctr, Dept Pathol, Dallas, TX USA Univ Texas, SW Med Ctr, Dept Pediat, Dallas, TX USA Univ Texas Dallas TX USA Texas, SW Med Ctr, Dept Pediat, Dallas, TX USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 83, anno: 1999,
pagine: 3 - 5
SICI:
0148-7299(19990305)83:1<3:LL3D(D>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACID BETA-OXIDATION; GERMLINE MUTATIONS; PTEN; PROTEIN; GENE; IDENTIFICATION; BREAST; CANCER; LOCUS;
Keywords:
Bannayan-Riley-Ruvalcaba syndrome; Bannayan-Zonana syndrome; Ruvalcaba-Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; carnitine deficiency; myopathy; mitochondria;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Bennett, MJ Childrens Med Ctr, Dept Pathol, 1985 Motor St, Dallas, TX 75235 USA Childrens Med Ctr 1985 Motor St Dallas TX USA 75235 75235 USA
Citazione:
L.R. Otto et al., "Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS)", AM J MED G, 83(1), 1999, pp. 3-5

Abstract

In order to test the hypothesis that long-chain L 3-hydroxyacyl-coenzyme Adehydrogenase (LCHAD) deficiency is associated with the lipid myopathy andmuscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome (ERRS), we studied the enzyme activity in cultured skin fibroblasts from three generations of a family with a clear dominant inheritance of ERRS. Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with ERRS in this family. No PTEN mutations were identified in the original patient with ERRS and LCHAD deficiency. These data suggest that the previously reported case of LCHAD and ERRS either represents the coincidental concurrence of two rare genetic events or that a gene other than PTEN is related to LCHAD and ERRS, (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/10/20 alle ore 21:07:00