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Titolo:
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient
Autore:
Lorda-Sanchez, I; Garcia-Ruiz, PJ; De Alba, MR; Montoya, J; Playan, A; Sarasa, JL; Trujillo, MJ; Sanz, R; Ramos, C; Ayuso, C;
Indirizzi:
Fdn Jimenez Diaz, Dept Genet, E-28040 Madrid, Spain Fdn Jimenez Diaz Madrid Spain E-28040 Dept Genet, E-28040 Madrid, Spain Fdn Jimenez Diaz, Dept Neurol, E-28040 Madrid, Spain Fdn Jimenez Diaz Madrid Spain E-28040 Dept Neurol, E-28040 Madrid, Spain Univ Zaragoza, Dept Biochem & Mol Biol, Zaragoza, Spain Univ Zaragoza Zaragoza Spain , Dept Biochem & Mol Biol, Zaragoza, Spain Fdn Jimenez Diaz, Dept Pathol, E-28040 Madrid, Spain Fdn Jimenez Diaz Madrid Spain E-28040 Dept Pathol, E-28040 Madrid, Spain
Titolo Testata:
GENETIC COUNSELING
fascicolo: 3, volume: 11, anno: 2000,
pagine: 261 - 265
SICI:
1015-8146(2000)11:3<261:AMPAAP>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL-DNA; CLINICAL-FEATURES; LACTIC-ACIDOSIS; EPISODES MELAS; DELETIONS; GENETICS; MUTATION; MYOPATHY; ENCEPHALOPATHY;
Keywords:
chromosome 10; encephalomyopathy; MELAS; mtDNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Lorda-Sanchez, I Fdn Jimenez Diaz, Dept Genet, Av Reyes Catolicos 2, E-28040 Madrid, Spain Fdn Jimenez Diaz Av Reyes Catolicos 2 Madrid Spain E-28040
Citazione:
I. Lorda-Sanchez et al., "A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient", GEN COUNSEL, 11(3), 2000, pp. 261-265

Abstract

A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient: We describe a patient suffering from encephalomyopathy with overlapping symptoms, including MELAS and Kearn-Sayre syndrome features. Mutations in tRNA LEU (UUR) were not found in mtDNA of blood cells, suggesting a different genetic defect. Cytogenetic studies revealed a paternal inherited pericentric inversion of chromosome 10 (p13:q22) pat. Although the presence of the same inversion in the father and in the apparently asymptomatic sister does rather suggest that the concurrence of the mitochondrial disease in the patient was due to chance, some alternative explanations to associate both events might be proposed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 09:46:57