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Titolo:
ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy
Autore:
Fitzgerald, KM; Cibis, GW; Gettel, AH; Rinaldi, R; Harris, DJ; White, RA;
Indirizzi:
Childrens Mercy Hosp, Vis Sci Lab, Kansas City, MO 64108 USA Childrens Mercy Hosp Kansas City MO USA 64108 , Kansas City, MO 64108 USA Childrens Mercy Hosp, Sect Ophthalmol, Kansas City, MO 64108 USA ChildrensMercy Hosp Kansas City MO USA 64108 , Kansas City, MO 64108 USA Childrens Mercy Hosp, Sect Rehabil Med, Kansas City, MO 64108 USA Childrens Mercy Hosp Kansas City MO USA 64108 , Kansas City, MO 64108 USA Childrens Mercy Hosp, Genet Sect, Kansas City, MO 64108 USA Childrens Mercy Hosp Kansas City MO USA 64108 , Kansas City, MO 64108 USA Univ Missouri, Sch Med, Eye Fdn Kansas City, Kansas City, MO 64108 USA Univ Missouri Kansas City MO USA 64108 as City, Kansas City, MO 64108 USA
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 36, anno: 1999,
pagine: 316 - 322
SICI:
0022-2593(199904)36:4<316:EPOADM>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
B-WAVE; PROTEIN; EXPRESSION; RETINA; GENE; ELECTRORETINOGRAM; DELETION; DYSTROGLYCAN; TRANSCRIPT; ISOFORMS;
Keywords:
muscular dystrophy; electroretinography; retina; dystrophin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Fitzgerald, KM ChildrensSAercy Hosp, Vis Sci Lab, 2401 Gillham Rd, Kansas City, MO 64108 U Childrens Mercy Hosp 2401 Gillham Rd Kansas City MO USA 64108
Citazione:
K.M. Fitzgerald et al., "ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy", J MED GENET, 36(4), 1999, pp. 316-322

Abstract

Purpose-Mutations in the dystrophin gene result in Duchenne muscular dystrophy (DMD). DMD is associated with an abnormal electroretinogram (ERG) if the mutation disrupts the translation of retinal dystrophin (Dp260). Our aimwas to determine if incomplete ERG abnormalities would be associated with heterozygous carriers of dystrophin gene mutations. Methods-Ganzfeld ERGs were obtained under scotopic and photopic testing conditions from a family which includes the heterozygous maternal grandmother, the heterozygous mother, and her children, two affected boys and dizygotic twin sibs, an unaffected male and heterozygous female. Southern blot analyses were done to characterise the dystrophin mutation. Results-The dystrophin gene was found to contain a deletion encompassing exon 50. The ERGs in the two affected boys were abnormal, consistent with the DMD ERG phenotype. Serial ERGs of the heterozygous females were abnormal;however, they were less severely affected than the DMD boys. The ERG of the female sib showed a greater abnormality than her mother and maternal grandmother. The unaffected twin had a normal ERG. Conclusions-The ERG shows abnormalities associated with carrier status in this family with a single exon deletion. A large study of confirmed obligate carriers is planned to clarify further the value of the ERG in detecting female heterozygous carriers of dystrophin gene mutations.

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Documento generato il 14/07/20 alle ore 06:15:11