منابع مشابه
Lipolysis and lipophagy in lipid storage myopathies
AIMS Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of lipophagy, the expression of the transcription factor-EB (TFEB) (a master regulator of lysosomal biogenesis), and markers of autophagy which are induced by starvation and exert a transcriptional control on lipid catabolism. METHODS We investigated the factors that r...
متن کاملLipid storage myopathies with unusual clinical manifestations.
We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on geneti...
متن کاملCongenital myopathies.
This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disorders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classificati...
متن کاملMetabolic myopathies.
PURPOSE OF REVIEW The metabolic myopathies result from inborn errors of metabolism affecting intracellular energy production due to defects in glycogen, lipid, adenine nucleotides, and mitochondrial metabolism. This article provides an overview of the most common metabolic myopathies. RECENT FINDINGS Our knowledge of metabolic myopathies has expanded rapidly in recent years, providing us with...
متن کاملToxic myopathies.
PURPOSE This article reviews the most important muscle toxins, many of which are widely prescribed medications. Particular emphasis is placed on statins, which cause muscle symptoms in a relatively large proportion of the patients who take them. RECENT FINDINGS As with other toxic myopathies, most cases of statin-associated myotoxicity are self-limited and subside with discontinuation of the ...
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ژورنال
عنوان ژورنال: Journal of Clinical Medicine
سال: 2018
ISSN: 2077-0383
DOI: 10.3390/jcm7120472