The Role of Skeletal Muscle in Neuromuscular Diseases: From Cellular and Molecular Players to Therapeutic Interventions

Dear Colleagues,

Neuromuscular disorders encompass genetic and acquired diseases of lower motor neurons, peripheral nerves, motor end plate, or skeletal muscle. Novel treatments, including gene therapy, are at the horizon for many genetic neuromuscular disorders or already in place for some of them.

The neuromuscular junction (NMJ) represents the morphofunctional interface between muscle and nerve. Defects in NMJ formation and maintenance cause neuromuscular disorders, including congenital myasthenic syndromes and autoimmune myasthenia gravis, contribute to the pathogenesis of spinal muscular atrophy, amyotrophic lateral sclerosis, and can even occur during aging. The molecular machinery underlying the NMJ formation and maintenance has been deeply studied; however, the role of skeletal muscle in NMJ dismantlement still needs to be fully elucidated.

In this Special Issue entitled “The Role of Skeletal Muscle in Neuromuscular Diseases: From Cellular and Molecular Players to Therapeutic Interventions”, we aim to collect recent research advances and ongoing studies focused on the role of skeletal muscle in the etiopathogenesis of genetic neuromuscular diseases. A particular focus will be kept on identifying cellular and molecular mechanisms underpinning onset and progression of neuromuscular disorders and the role of NMJ in their pathophysiology. Moreover, we aim to gather clinical and basic scientific research providing a joint commentary on how intervention in muscle cells might attenuate neuromuscular pathological features.

We look forward to your contributions.

Dr. Gabriella Dobrowolny
Dr. Bianca Maria Scicchitano
Dr. Giorgio Tasca
Guest Editors

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