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Lipid Myopathies

1
Unit of Neuromuscular Disorders, Neurology, San Filippo Neri Hospital, 00135 Rome, Italy
2
Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant’ Andrea Hospital, 00189 Rome, Italy
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2018, 7(12), 472; https://doi.org/10.3390/jcm7120472
Received: 28 October 2018 / Revised: 15 November 2018 / Accepted: 17 November 2018 / Published: 23 November 2018
(This article belongs to the Special Issue Advances in Metabolic Myopathies)
Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all ages, from early stages of life to late-adult onset, showing with a wide spectrum of clinical symptoms. Muscular involvement can be fluctuant or stable and can manifest as fatigue, exercise intolerance and muscular weakness. Muscular atrophy is rarely present. Acute muscular exacerbations, resulting in rhabdomyolysis crisis are triggered by several factors. Several classifications of lipid myopathies have been proposed, based on clinical involvement, biochemical defect or histopathological findings. Herein, we propose a full revision of all the main clinical entities of lipid metabolism disorders with a muscle involvement, also including some those disorders of fatty acid oxidation (FAO) with muscular symptoms not included among previous lipid myopathies classifications. View Full-Text
Keywords: lipid myopathies; lipid storage disease; muscle lipidosis; lipid metabolism disorders; beta-oxidation defects; FAO defect; metabolic myopathies lipid myopathies; lipid storage disease; muscle lipidosis; lipid metabolism disorders; beta-oxidation defects; FAO defect; metabolic myopathies
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Pennisi, E.M.; Garibaldi, M.; Antonini, G. Lipid Myopathies. J. Clin. Med. 2018, 7, 472.

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