Results 11 to 20 of about 988,052 (165)
Characteristics of metabolic myopathies among Egyptian patients
The Egyptian Journal of Neurology, Psychiatry and NeurosurgeryBackground Metabolic Myopathies are characterized by defect in muscle energy production. The main symptoms are exercise intolerance, fatigue, myalgias, rhabdomyolysis and \or weakness, they present with episodic or fixed manifestations.
Mennat-Allah M. Elgamal +4 more
doaj +2 more sources
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies. [PDF]
Mol Genet Metab, 2022 Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to generate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to impaired muscle development or functioning.
Angelini C +3 more
europepmc +2 more sources
Spectrum of metabolic myopathies
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015 Metabolic myopathies are disorders of utilization of carbohydrates or fat in muscles. The acute nature of energy failure is manifested either by a metabolic crisis with weakness, sometimes associated with respiratory failure, or by myoglobinuria. A typical disorder where permanent weakness occurs is glycogenosis type II (GSDII or Pompe disease) both in
Angelini C.
openaire +4 more sources
Research progress of electrophysiology for the diagnosis of metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Metabolic myopathies comprise a group of diverse disorders characterized by defects ofn energy metabolism in skeletal muscle cells, including glycogen storage disease (GSD), lipid storage myopathy (LSM) and mitochondrial myopathy.
Lei ZHAO, Li⁃ying CUI
doaj +1 more source
The Multifaceted Cause of Lipid Storage Myopathies, Genetics, and Treatment
Frontiers in Bioscience-ScholarSeveral inherited metabolic fatty acid disorders present with myopathies. Skeletal muscle accounts for 40% of the body and is important for metabolism, exercise, and movement.
Corrado Angelini
doaj +2 more sources
Exercise efficiency impairment in metabolic myopathies. [PDF]
Sci Rep, 2020 International audienceMetabolic myopathies are muscle disorders caused by a biochemical defect of the skeletal muscle energy system resulting in exercise intolerance.
Noury JB +4 more
europepmc +2 more sources
Therapeutic advances in the management of Pompe disease and other metabolic myopathies
Therapeutic Advances in Neurological Disorders, 2013 The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement therapy (ERT), the first causative treatment for glycogenosis type II (GSDII) or Pompe disease, which has given new impetus to research into that disease
Corrado Angelini +2 more
doaj +2 more sources
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies. [PDF]
Sci Rep, 2020 International audienceMetabolic myopathies comprise a diverse group of inborn errors of intermediary metabolism affecting skeletal muscle, and often present clinically as an inability to perform normal exercise.
Noury JB +5 more
europepmc +2 more sources
Clinical Advances in Neuromuscular Diseases: Neurometabolic Disorders
Muscles, 2023 Metabolic myopathies are characterized by the dysfunction of several metabolic pathways that results in a deficiency of fuels required to generate energy for muscle contractions [...]
Corrado Angelini, Daniela Tavian
doaj +1 more source
Metabolic and Mitochondrial Myopathies
, 2023 Metabolic and mitochondrial myopathies are genetic disorders that cause muscle disease due to a deficiency in energy metabolism. Particularly, lipid and carbohydrate metabolism disorders cause myopathy.
Diniz, Gülden +2 more
core +1 more source