Skip to main content

Main menu

  • Home
  • Content
    • Latest
    • Ahead of print
    • Archive
  • Info for
    • Authors
    • Reviewers
    • Subscribers
    • Institutions
    • Advertisers
  • About Us
    • About Us
    • Editorial Office
    • Editorial Board
  • More
    • Alerts
    • Feedback
    • Folders
    • Help
  • Other Publications
    • Saudi Medical Journal

User menu

  • My alerts
  • Log in

Search

  • Advanced search
Neurosciences Journal
  • Other Publications
    • Saudi Medical Journal
  • My alerts
  • Log in
Neurosciences Journal

Advanced Search

  • Home
  • Content
    • Latest
    • Ahead of print
    • Archive
  • Info for
    • Authors
    • Reviewers
    • Subscribers
    • Institutions
    • Advertisers
  • About Us
    • About Us
    • Editorial Office
    • Editorial Board
  • More
    • Alerts
    • Feedback
    • Folders
    • Help
  • Follow psmmc on Twitter
  • Visit psmmc on Facebook
  • RSS
Research ArticleORIGINAL ARTICLES
Open Access

Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy

Nacim Louhichi, Chahnez Triki, Mariem Meziou, Souad Rouis, Hammadi Ayadi and Faiza Fakhfakh
Neurosciences Journal October 2004, 9 (4) 247-253;
Nacim Louhichi
Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Sfax, 3029, Tunisia. Tel. +216 (74) 246946. Fax. +216 (74) 246946. E-mail: [email protected]
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: [email protected]
Chahnez Triki
Faculte de Medecine de Sfax and Service de Neurologie, Chu Habib Bourguiba, Sfax, Tunisia.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Mariem Meziou
Faculte de Medecine de Sfax and Service de Neurologie, Chu Habib Bourguiba, Sfax, Tunisia.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Souad Rouis
Laboratoire de Genetique Moleculaire Humaine, Chu Habib Bourguiba, Sfax, Tunisia.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Hammadi Ayadi
Laboratoire de Genetique Moleculaire Humaine, Chu Habib Bourguiba, Sfax, Tunisia.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Faiza Fakhfakh
Laboratoire de Genetique Moleculaire Humaine, Chu Habib Bourguiba, Sfax, Tunisia.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • eLetters
  • Info & Metrics
  • PDF
Loading

Abstract

OBJECTIVE: To minimize the uncertainty in clinical diagnosis and improve the classification of 14 Tunisian patients belonging to 12 families and affected with congenital muscular dystrophy (CMD).

METHODS: Fourteen patients belonging to 12 unrelated families originating from the south of Tunisia and affected with CMD were clinically examined between 1990 and 2001 in the neurology service of Chu Habib Bourguiba, Sfax, Tunisia. Immunohistochemical and western blot analyses were used to explore protein expression in muscular biopsies and homozygosity mapping using microsatellite markers for the genetic study. These analyses were performed in the human molecular genetics laboratory.

RESULTS: Among the patients tested with anti-merosin antibodies, 3 showed total laminin-a2 deficiency and the remaining patients showed partial laminin-a2 deficiency. All patients expressed normally a-sarcoglycan, b-dystroglycan and dystrophin except 2 showing reduction of expression in a-sarcoglycan and b-dystroglycan. Linkage analysis, performed for 8 families, was compatible with linkage to the LAMA2 gene for only 2.

CONCLUSION: Our results showed that clinical and immunohistochemical analyses have allowed classification of only 3 patients, immunohistochemical and genotyping studies have contributed to the classification of 7 patients. In the remaining cases, there is no evident classification due to the lack of the genetic exploration. Our results also confirmed the broad spectrum of phenotypes associated with a defect in laminin-a2.

  • Copyright: © Neurosciences

Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.

PreviousNext
Back to top

In this issue

Neurosciences Journal: 9 (4)
Neurosciences Journal
Vol. 9, Issue 4
1 Oct 2004
  • Table of Contents
  • Table of Contents (PDF)
  • Cover (PDF)
  • Index by author
Download PDF
Email Article

Thank you for your interest in spreading the word on Neurosciences Journal.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy
(Your Name) has sent you a message from Neurosciences Journal
(Your Name) thought you would like to see the Neurosciences Journal web site.
Citation Tools
Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy
Nacim Louhichi, Chahnez Triki, Mariem Meziou, Souad Rouis, Hammadi Ayadi, Faiza Fakhfakh
Neurosciences Journal Oct 2004, 9 (4) 247-253;

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy
Nacim Louhichi, Chahnez Triki, Mariem Meziou, Souad Rouis, Hammadi Ayadi, Faiza Fakhfakh
Neurosciences Journal Oct 2004, 9 (4) 247-253;
Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Bookmark this article

Jump to section

  • Article
  • eLetters
  • Info & Metrics
  • PDF

Related Articles

  • No related articles found.
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

  • Characteristics of the patients who admitted to the emergency department with seizures and the factors affecting the frequency of admission
  • Prescribing practices in the treatment of depression among psychiatrists in Oman
  • Low versus standard dose intravenous alteplase in the treatment of acute ischemic stroke in Egyptian patients
Show more ORIGINAL ARTICLES

Similar Articles

Navigate

  • home

More Information

  • Help

Additional journals

  • All Topics

Other Services

  • About

© 2025 Neurosciences Journal Neurosciences is copyright under the Berne Convention and the International Copyright Convention. All rights reserved. Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3183. Print ISSN 1319-6138.

Powered by HighWire