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Titolo:
Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study
Autore:
Martin, MA; Rubio, JC; Buchbinder, J; Fernandez-Hojas, R; del Hoyo, P; Teijeira, S; Gamez, J; Navarro, C; Fernandez, JM; Cabello, A; Campos, Y; Cervera, C; Culebras, JM; Andreu, AL; Fletterick, R; Arenas, J;
Indirizzi:
Hosp Univ 12 Octubre, Ctr Invest, Madrid 28041, Spain Hosp Univ 12 Octubre Madrid Spain 28041 Ctr Invest, Madrid 28041, Spain Hosp Univ 12 Octubre, Secc Neuropatol, Madrid 28041, Spain Hosp Univ 12 Octubre Madrid Spain 28041 Neuropatol, Madrid 28041, Spain Univ Calif San Francisco, Dept Biochem Biophys & Cellular & Mol Pharmacol,San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Hosp Meixoeiro, Dept Neuropatol & Neurofisiol, Vigo, Spain Hosp MeixoeiroVigo Spain o, Dept Neuropatol & Neurofisiol, Vigo, Spain Hosp Gen Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona, Spain Hosp Gen Valle Hebron Barcelona Spain quim & Biol Mol, Barcelona, Spain Hosp Gen Valle Hebron, Serv Neurol, Barcelona, Spain Hosp Gen Valle Hebron Barcelona Spain on, Serv Neurol, Barcelona, Spain Univ Complutense Madrid, Dept Bioquim & Biol Mol, Madrid, Spain Univ Complutense Madrid Madrid Spain Bioquim & Biol Mol, Madrid, Spain
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 5, volume: 50, anno: 2001,
pagine: 574 - 581
SICI:
0364-5134(200111)50:5<574:MHOMD(>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
GLYCOGEN-PHOSPHORYLASE GENE; MISSENSE MUTATION W797R; SPANISH PATIENT; NONSENSE MUTATION; DIAGNOSIS; EXON-1; FAMILY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Arenas, J Hosp Univ 12 Octubre, Ctr Invest, Ave Andalucia Km 5,4, Madrid 28041, Spain Hosp Univ 12 Octubre Ave Andalucia Km 5,4 Madrid Spain 28041 in
Citazione:
M.A. Martin et al., "Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study", ANN NEUROL, 50(5), 2001, pp. 574-581

Abstract

We report on 54 Spanish patients with McArdle's disease from 40 unrelated families. Molecular analysis revealed that the most common R49X mutation was present in 70% of patients and 55% of alleles. The G204S mutation was less frequent and found in 14.8% of patients and 9% of mutant alleles. The W797R mutation was observed in 16.5% of patients, accounting for 13.7% of mutant alleles. Moreover, 78% of mutant alleles among Spanish patients can be identified by using polymerase chain reaction-restriction fragment length polymorphism analysis for the R49X, G204S, and W797R mutations, which makes noninvasive diagnosis possible through molecular genetic analysis of blood DNA. Six novel mutations were found. Three were missense mutations, E348K, R601W, and A703V; two nonsense mutations, E124X and Q754X; and one single base pair deletion, 533 delA. No dear genotype-phenotype correlation emerges from our study. Most of the mutations of uncharged and solvent inaccessibleresidues and the truncations must disrupt the basic structure of the protein. The mutations of charged residues would be expected to interfere with internal hydrogen bonding networks, introducing severe incompatible partnering that is caused by poor packing or electrostatic repulsions.

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Documento generato il 04/04/20 alle ore 10:05:33