Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
THE EXPANDING CLINICAL PHENOTYPE OF THE TRNA(LEU(UUR)) A-]G MUTATION AT NP-3243 OF MITOCHONDRIAL-DNA - DIABETIC EMBRYOPATHY ASSOCIATED WITHMITOCHONDRIAL CYTOPATHY
Autore:
FEIGENBAUM A; CHITAYAT D; ROBINSON B; MACGREGOR D; MYINT T; ARBUS G; NOWACZYK MJM;
Indirizzi:
UNIV TORONTO,DIV CLIN GENET,HOSP SICK CHILDREN,555 UNIV AVE TORONTO ON M5G 1X8 CANADA UNIV TORONTO,DIV NEUROL,HOSP SICK CHILDREN TORONTO ON M5G 1X8 CANADA UNIV TORONTO,DIV NEPHROL,HOSP SICK CHILDREN TORONTO ON M5G 1X8 CANADA UNIV TORONTO,DEPT PAEDIAT,HOSP SICK CHILDREN TORONTO ON M5G 1X8 CANADA UNIV TORONTO,DEPT BIOCHEM,HOSP SICK CHILDREN TORONTO ON M5G 1X8 CANADA
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 62, anno: 1996,
pagine: 404 - 409
SICI:
0148-7299(1996)62:4<404:TECPOT>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
LACTIC-ACIDOSIS; EMBRYONIC MALFORMATIONS; POINT MUTATION; EPISODES MELAS; ENCEPHALOPATHY; MYOPATHY; GENE; DEFICIENCY; MELLITUS; INVITRO;
Keywords:
MITOCHONDRIA; MELAS; DIABETIC EMBRYOPATHY; CAUDAL REGRESSION; ANAL ATRESIA; DIABETES MELLITUS; SEIZURES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
A. Feigenbaum et al., "THE EXPANDING CLINICAL PHENOTYPE OF THE TRNA(LEU(UUR)) A-]G MUTATION AT NP-3243 OF MITOCHONDRIAL-DNA - DIABETIC EMBRYOPATHY ASSOCIATED WITHMITOCHONDRIAL CYTOPATHY", American journal of medical genetics, 62(4), 1996, pp. 404-409

Abstract

We describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A-->G transition atnucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including anal atresia, caudal dysgenesis, and multicysticdysplastic kidneys. His co-twin was normal at birth, but at 3 months of life, presented with intractable seizures later associated with developmental delay. The twins' mother developed diabetes mellitus type Iat the age of 20 years and gastrointestinal problems at 22 years. Since age 19 years, the maternal aunt has had recurrent strokes, seizures, mental deterioration and deafness, later diagnosed as MELAS syndromedue to the tRNA(Leu(UUR)) A-->G mutation. A maternal uncle had diabetes mellitus type I, deafness, and normal intellect, and died at 35 years after recurrent strokes. This pedigree expands the known clinical phenotype associated with tRNA(Leu(UUR)) A-->G mutation and raises the possibility that, in some cases, diabetic embryopathy may be due to a mitochondrial cytopathy that affects both the mother's pancreas (and results in diabetes mellitus and the metabolic dysfunction associated with it) and the embryonic/fetal and placental tissues which make the embryo more vulnerable to this insult. (C) 1996 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/07/20 alle ore 12:49:54