Lipid storage myopathies

Current Opinion in Neurology

Volumn 21, Issue 5, 2008, Pages 601-606

  Bruno, Claudio ^a   DiMauro, Salvatore ^b  

^a G GASLINI INSTITUTE   (Italy)

^b Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Carnitine palmitoyltransferase deficiency type II; Chanarin Dorfman syndrome; Coenzyme Q10; Lipid myopathy; Neutral lipid storage disorder with myopathy; Very longchain acyl coenzyme a dehydrogenase deficiency

Indexed keywords

BEZAFIBRATE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE II; DANTROLENE; GLUCOSE; MEDIUM CHAIN TRIACYLGLYCEROL; TRIACYLGLYCEROL; UBIDECARENONE; UNCLASSIFIED DRUG;

BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CARNITINE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CATABOLISM; CELL MEMBRANE TRANSPORT; CHANARIN DORFMAN SYNDROME; CLINICAL FEATURE; DIET RESTRICTION; DRUG MEGADOSE; ENERGY YIELD; ENZYME DEFICIENCY; EXERCISE; FATTY ACID OXIDATION; FATTY ACID TRANSPORT; GENE MUTATION; HUMAN; ICHTHYOSIS; IMMUNOHISTOCHEMISTRY; INFECTION; LIPID STORAGE; LIPIDOSIS; LIPOLYSIS; MITOCHONDRION; MULTIPLE ACYL COENZYME A DEHYDROGENATION DEFICIENCY; MUSCLE WEAKNESS; MYOPATHY; NONHUMAN; OXIDATION; PHENOTYPE; REVIEW; RHABDOMYOLYSIS; SKELETAL MUSCLE; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ACYL-COA DEHYDROGENASE; CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; ELECTRON TRANSPORT COMPLEX I; ELECTRON-TRANSFERRING FLAVOPROTEINS; FATTY ACIDS; HUMANS; LIPID METABOLISM, INBORN ERRORS; MUSCLE, SKELETAL; MUSCULAR DISEASES; TRIGLYCERIDES; UBIQUINONE;

EID: 53549106330     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32830dd5a6     Document Type: Review

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