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Special Issue "Molecular Mechanisms, Pathophysiology and Phenotypes of Mitochondrial Disorders"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 30 September 2021.

Special Issue Editor

Prof. Dr. michelangelo mancuso
E-Mail Website
Guest Editor
Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, 56126 Pisa, Italy
Interests: mitochondrial diseases; neurogenetics

Special Issue Information

Dear Colleagues,

Mitochondrial diseases are the most common inheritable metabolic diseases resulting from defects in oxidative phosphorylation. They are caused by mutations of nuclear or mitochondrial DNA in genes involved in mitochondrial function. While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy), many involve multiple organ systems and often present with prominent neurologic features. Understanding the phenotypic diversity and elucidating the molecular mechanisms at the basis of these diseases has, however, proved challenging.

With this Special Issue, we intent to explore the molecular basis, the clinical spectrum, the diagnostic approach and the treatment advances of these devastating disorders.

Prof. Dr. michelangelo mancuso
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.


  • mitochondrial diseases
  • clinical phenotypes
  • diagnostic approaches
  • genetics

Published Papers

This special issue is now open for submission.
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