E-Mail Alert

Add your e-mail address to receive forthcoming issues of this journal:

Journal Browser

Journal Browser

Special Issue "Towards Understanding the Mechanisms and Curing Of Muscular Dystrophy Diseases"

A special issue of Pharmaceuticals (ISSN 1424-8247).

Deadline for manuscript submissions: closed (28 February 2015)

Special Issue Editor

Guest Editor
Prof. Dr. Leonidas A. Phylactou

Chief Executive Medical Director, The Cyprus Institute of Neurology & Genetics, PO Box 23462, 1683 Nicosia, Cyprus
Website | E-Mail
Interests: RNA biology; regulatory RNA molecules; muscle regeneration, identification of genetic defects in inherited diseases

Special Issue Information

Dear Colleagues,

The journals Molecules and Pharmaceuticals will be jointly publishing a Special Issue covering the topic, “Towards Understanding the Mechanisms and Curing of Muscular Dystrophy Diseases”, and I would like to invite you to make submissions addressing the following interesting topics regarding muscular dystrophy.

Muscular dystrophies are a heterogeneous group of inherited diseases with different molecular basis, but sharing similar clinical features and dystrophic changes. Although, substantial ground has been covered on the understanding of several muscular dystrophies, more research efforts would be beneficial in this direction. Similarly, there are several pre-clinical and clinical attempts aiming at the therapy of muscular dystrophies, such as genetic, cellular, and pharmacological. It is certain that in the future, new approaches will be developed whereby optimization of current methods will be carried out.

The purpose of this Special Issue is to host research and review papers on the molecular understanding of muscular dystrophies and methods to cure them.

Prof. Dr. Leonidas A. Phylactou
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Pharmaceuticals is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 850 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


Keywords

  • Muscular dystrophy
  • Muscle
  • Gene
  • Mutation
  • inherited
  • pathogenesis
  • gene therapy

Published Papers (1 paper)

View options order results:
result details:
Displaying articles 1-1
Export citation of selected articles as:

Review

Open AccessReview X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy
Pharmaceuticals 2015, 8(2), 303-320; doi:10.3390/ph8020303
Received: 9 March 2015 / Accepted: 4 June 2015 / Published: 9 June 2015
Cited by 5 | PDF Full-text (907 KB) | HTML Full-text | XML Full-text
Abstract
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between
[...] Read more.
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder phenotype of skeletal muscle involvement compared to Duchenne muscular dystrophy (DMD) and sometimes present with dilated cardiomyopathy. The precise relationship between mutations in the DMD gene and cardiomyopathy remain unclear. However, some hypothetical mechanisms are being considered to be associated with the presence of some several dystrophin isoforms, certain reported mutations, and an unknown dystrophin-related pathophysiological mechanism. Recent therapy for Duchenne muscular dystrophy, the severe dystrophinopathy phenotype, appears promising, but the presence of XLDCM highlights the importance of focusing on cardiomyopathy while elucidating the pathomechanism and developing treatment. Full article
Figures

Figure 1

Back to Top