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Titolo:
MATERNAL INHERITANCE AND THE EVALUATION OF OXIDATIVE-PHOSPHORYLATION DISEASES
Autore:
SHOFFNER JM;
Indirizzi:
EMORY UNIV,SCH MED,DEPT GENET & MOL MED,1462 CLIFTON RD,SUITE 276 ATLANTA GA 30322 EMORY UNIV,SCH MED,DEPT NEUROL ATLANTA GA 30322
Titolo Testata:
Lancet
fascicolo: 9037, volume: 348, anno: 1996,
pagine: 1283 - 1288
SICI:
0140-6736(1996)348:9037<1283:MIATEO>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUSCLE MITOCHONDRIAL-DNA; POINT MUTATION; LACTIC-ACIDOSIS; MTDNA MUTATION; EPISODES MELAS; MYOCLONIC EPILEPSY; LEIGH-SYNDROME; RNALYS GENE; DELETIONS; MYOPATHY;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
35
Recensione:
Indirizzi per estratti:
Citazione:
J.M. Shoffner, "MATERNAL INHERITANCE AND THE EVALUATION OF OXIDATIVE-PHOSPHORYLATION DISEASES", Lancet, 348(9037), 1996, pp. 1283-1288

Abstract

Mitochondrial DNA is more susceptible than nuclear DNA to mutations. Mitochondrial mutations have been associated with a range of disorders, some of which can be inherited maternally as well as by mendelian patterns. The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns-Sayre syndrome, for example, can include cardiac abnormalities, diabetes mellitus, cerebellar ataxia, and deafness. An understanding of the genetic and biochemical basis of these disorders wilt help in the adoption of a systematic approach to their diagnosis and to patient management.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 03:58:50