Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients

L. Vitiello, M. L. Mostacciuolo, S. Oliviero, F. Schiavon, L. Nicoletti, C. Angelini, G. A. Danieli

Research output: Contribution to journalArticle

Abstract

Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of DNA sequences of the promoter region failed to detect abnormalities. The majority of deletions in coding sequences, detected by cDNA probes, occur in the deletion hot spot identified by the probe P20. Intrafamilial variability in the severity of the disease is reported and discussed.

Original languageEnglish
Pages (from-to)127-130
Number of pages4
JournalJournal of Medical Genetics
Volume29
Issue number2
Publication statusPublished - Feb 1992

Fingerprint

Genetic Promoter Regions
Muscles
Mutation
Dystrophin
DNA Sequence Analysis
Italy
Complementary DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Vitiello, L., Mostacciuolo, M. L., Oliviero, S., Schiavon, F., Nicoletti, L., Angelini, C., & Danieli, G. A. (1992). Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. Journal of Medical Genetics, 29(2), 127-130.

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. / Vitiello, L.; Mostacciuolo, M. L.; Oliviero, S.; Schiavon, F.; Nicoletti, L.; Angelini, C.; Danieli, G. A.

In: Journal of Medical Genetics, Vol. 29, No. 2, 02.1992, p. 127-130.

Research output: Contribution to journalArticle

Vitiello, L, Mostacciuolo, ML, Oliviero, S, Schiavon, F, Nicoletti, L, Angelini, C & Danieli, GA 1992, 'Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients', Journal of Medical Genetics, vol. 29, no. 2, pp. 127-130.
Vitiello L, Mostacciuolo ML, Oliviero S, Schiavon F, Nicoletti L, Angelini C et al. Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. Journal of Medical Genetics. 1992 Feb;29(2):127-130.
Vitiello, L. ; Mostacciuolo, M. L. ; Oliviero, S. ; Schiavon, F. ; Nicoletti, L. ; Angelini, C. ; Danieli, G. A. / Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. In: Journal of Medical Genetics. 1992 ; Vol. 29, No. 2. pp. 127-130.
@article{e70d2fb83c63400ca1e0ad9bbf5b66b0,
title = "Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients",
abstract = "Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of DNA sequences of the promoter region failed to detect abnormalities. The majority of deletions in coding sequences, detected by cDNA probes, occur in the deletion hot spot identified by the probe P20. Intrafamilial variability in the severity of the disease is reported and discussed.",
author = "L. Vitiello and Mostacciuolo, {M. L.} and S. Oliviero and F. Schiavon and L. Nicoletti and C. Angelini and Danieli, {G. A.}",
year = "1992",
month = "2",
language = "English",
volume = "29",
pages = "127--130",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
number = "2",

}

TY - JOUR

T1 - Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients

AU - Vitiello, L.

AU - Mostacciuolo, M. L.

AU - Oliviero, S.

AU - Schiavon, F.

AU - Nicoletti, L.

AU - Angelini, C.

AU - Danieli, G. A.

PY - 1992/2

Y1 - 1992/2

N2 - Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of DNA sequences of the promoter region failed to detect abnormalities. The majority of deletions in coding sequences, detected by cDNA probes, occur in the deletion hot spot identified by the probe P20. Intrafamilial variability in the severity of the disease is reported and discussed.

AB - Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of DNA sequences of the promoter region failed to detect abnormalities. The majority of deletions in coding sequences, detected by cDNA probes, occur in the deletion hot spot identified by the probe P20. Intrafamilial variability in the severity of the disease is reported and discussed.

UR - http://www.scopus.com/inward/record.url?scp=0026535359&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026535359&partnerID=8YFLogxK

M3 - Article

C2 - 1613762

AN - SCOPUS:0026535359

VL - 29

SP - 127

EP - 130

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 2

ER -