Pathophysiology and Treatment of Nemaline Myopathy

Dear Colleagues,

Over the last few decades, we have made great progress in identifying the genetic mutations that cause nemaline myopathy. We have also started to understand how some of these mutations result in muscle weakness through their disruption of the normal myofilament function, but much more work remains to be carried out. The connection between the causative mutations and muscle hypotrophy/atrophy remains largely obscure. Furthermore, there are currently no approved therapies targeting the underlying pathological processes that result in muscle weakness and muscle smallness. This unmet need represents a considerable burden for patients and their families. With these issues in mind, we are excited to announce a Special Issue of the International Journal of Molecular Science (IJMS) entitled “Pathophysiology and Treatment of Nemaline Myopathy”, which will focus on the molecular mechanisms that contribute to the disease phenotype and new innovative therapeutic approaches for nemaline myopathy. Since IJMS is a journal of molecular science, pure clinical or model studies will not be suitable for our journal. However, clinical or pure model submissions with biomolecular experiments are welcomed.

Dr. Johan Lindqvist
Guest Editor

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• nemaline myopathy
• hereditary neuromuscular disorder
• genetic mutations
• pathogenesis
• pathophysiology
• therapy
• myofilament dysfunction