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Cellular and Molecular Mechanisms in Neuromuscular Diseases and Myopathies

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

Deadline for manuscript submissions: closed (30 December 2023) | Viewed by 1636

Special Issue Editor


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Guest Editor
Department of Neurology, National and Kapodistrian University of Athens, 11528 Athens, Greece
Interests: neuromuscular disorders; neuronopathies; neuropathies; junction disorders; myopathies
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neuromuscular diseases include a broad spectrum of disorders, which may be classified on the basis of the level of involvement, into neuronopathies, neuropathies, junction disorders and myopathies. They are either acquired or inherited and the mode of transmission may be autosomal dominant or recessive, X-linked or mitochondrial, while interactions between genetic and environmental factors, do also exist. The rapid and impressive progress in the field of genetics over the last decades, led to the ever greater elucidation of the underlying mechanisms of inherited neuromuscular disorders and especially of myopathies. On the other hand, the recognition of immunological alterations shed light on the causative mechanisms of many acquired diseases of the peripheral nervous system. However, despite the siginificant strides in understanding the pathophysiology of these conditions, most neuromuscular diseases are still without specific and effective treatments.     

The aim of this special Issue of the International Journal of Molecular Sciences is to further delineate cellular and molecular mechanisms of neuromuscular diseases and especially myopathies which could potentially contribute to the discovery of new treatments.

Dr. George Papadimas
Guest Editor

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Keywords

  • neuromuscular disorders
  • neuronopathies
  • neuropathies
  • junction disorders
  • myopathies

Published Papers (1 paper)

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10 pages, 1199 KiB  
Case Report
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
by Constantinos Papadopoulos, Edoardo Malfatti, Corinne Métay, Boris Keren, Elodie Lejeune, Julien Buratti, Sophia Xirou, Margarita Chrysanthou-Piterou and George K. Papadimas
Int. J. Mol. Sci. 2023, 24(13), 11181; https://doi.org/10.3390/ijms241311181 - 6 Jul 2023
Cited by 1 | Viewed by 1310
Abstract
Desmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively called desminopathies. Here [...] Read more.
Desmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively called desminopathies. Here we describe the clinical, histological and radiological features of a Greek patient with a myofibrillar myopathy and cardiomyopathy linked to the c.734A>G,p.(Glu245Gly) heterozygous variant in the DES gene. Moreover, through ribonucleic acid sequencing analysis in skeletal muscle we show that this variant provokes a defect in exon 3 splicing and thus should be considered clearly pathogenic. Full article
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