Advances in Metabolic Myopathies
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Endocrinology & Metabolism".
Deadline for manuscript submissions: closed (30 June 2019) | Viewed by 22701
Special Issue Editors
Interests: clinical; diagnostic; pathological and pathophysiological aspects of neuromuscular diseases in-cluding metabolic myopathies (muscle glycogenosis; lipid storage myopathies and mitochondrial diseases); muscular dystrophies neuropathies and motor neuron diseases. (keywords: myopa-thies; peripheral neuropathies; motor neuron diseases)
Special Issues, Collections and Topics in MDPI journals
Interests: clinical, diagnostic and pathophysiological aspects of neurodegenerative diseases
Special Issue Information
Dear Colleagues,
On behalf of the Journal of Clinical Medicine (JCM) Editorial Team, I am delighted to present a new Special Issue on the topic of “Advances in Metabolic Myopathies”, Guest Edited by Dr. Massimiliano Filosto, from the Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili Brescia, Italy.
In recent years, the fields of metabolic myopathies have aroused increasing interest due to novel diagnostic genetic tools and the possibility of new therapies based on enzyme substitution or gene therapy.
Metabolic myopathies comprise a clinically and etiologically heterogeneous group of diseases, linked to defects in cell energy metabolism, including muscle glycogenosis, fatty acid-related myopathies, and mitochondrial respiratory chain defects. Clinical spectrum of this group of diseases is very wide and ranges from infantile-onset to adult-onset forms and includes fixed myopathies, exercise-related myopathies, and multisystem diseases. Diagnosing these disorders is often puzzling because of their heterogeneity and possible misdiagnosis.
The present Special Issue aims to provide non-specialist physicians in myology the tools to suspect a metabolic myopathy, to orientate among the various clinical forms in order to achieve a more rapid diagnosis, and to know current and future therapeutic options.
Prof. Dr. Massimiliano Filosto
Prof. Alessandro Padovani
Guest Editor
Manuscript Submission Information
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Keywords
- Metabolic Myopathies
- Muscle Glycogenoses
- Lipid Storage Myopathies
- Mitochondrial Diseases
- Treatment of Mmetabolic Myopathies