Special Issue "Genetic Basis and Epidemiology of Myopathies"
Deadline for manuscript submissions: closed (31 October 2020).
Interests: degenerative neurological diseases; neurorehabilitation
Special Issues, Collections and Topics in MDPI journals
Special Issue in Medicina: Emerging Concepts in Migraine Pathophysiology, Treatment and Management
Special Issue in Healthcare: Neurorehabilitation: Looking Back and Moving Forward
Special Issue in International Journal of Molecular Sciences: Genetic Basis and Epidemiology of Myopathies 2.0
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually appearing from birth, and a static or slowly progressive cognitive decline. Though different candidate genes have now been identified as associated with the various phenotypic and histological expressions of myopathies, the unexpectedly wide genetic and clinical heterogeneity of these disorders calls for more extensive research on the genetic factors influencing their pathogenesis. Furthermore, because of the paucity of neuropsychological data on myopathies, further studies are required to determine the cognitive (sub)domains that are mostly negatively affected, as well as the consistency of cognitive deficits in patients with different types of myopathies. This Special Issue aims at reducing these gaps by collecting studies on the role of genetic factors in the pathogenesis of myopathies as well as on the cognitive impairments that determine the classification of the many forms of myopathies.
Dr. Dardiotis Efthimios
Dr. Eleni Peristeri
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.