Clinical Advances in Neuromuscular Diseases: Neurometabolic Disorders
A topical collection in Muscles (ISSN 2813-0413).
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Interests: metabolic myopathies; muscular dystrophy; neutral lipid storage disorders; spinal muscular atrophy; McArdle disease
Special Issues, Collections and Topics in MDPI journals
Interests: NLSD-M; NLSD-I
Special Issues, Collections and Topics in MDPI journals
Topical Collection Information
Dear Colleagues,
Metabolic disorders are characterized by the deficiency or dysfunction of essential metabolites and most commonly manifest with neurological symptoms due to impaired brain development or functioning. Due to their low incidence and high mortality, metabolic disorders are traditionally the preserve of pediatric neurologists; however, some can present in adulthood and increasing numbers of patients transition into adult services. Therefore, the neurometabolic disorders of inborn error of metabolism with CNS involvement apply to both children and adult neurologists.
Recent advances have been reported in mitochondrial encephalomyopathies and neutral lipid storage disorders. The covered topics of interest in this Topical Collection include, but are not limited to, the following:
- Glycogen storage disorders;
- Pompe, McArdle diseases and Danon disease;
- Lipid metabolic disorders, i.e., carnitine deficiency, organic aciduria, RR-MADD, NLSD-M and NLSD-I;
- Mitochondrial encefalomyopaties;
- Muscular dystrophies mimicking metabolic disorders with cramps or myoglobinuria, such as Becker muscular dystrophy, calpainopathy, dysferlinopathy, etc.
Prof. Dr. Corrado Angelini
Prof. Dr. Daniela Tavian
Collection Editors
Manuscript Submission Information
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Keywords
- glycogen
- lipid disorders
- Pompe
- NLSD-M
- NLSD-I
- mitochondria
- McArdle disease