Metabolic myopathies: a clinical approach; part II.
Major recent advances in the field of metabolic myopathies have helped delineate the genetic and biochemical basis of these disorders. This progress has also resulted in the development of new diagnostic and therapeutic methodologies. In this second part, we present an updated review of the main nonlysosomal and lysosomal glycogenoses and lipid metabolism defects that manifest with signs of transient or permanent muscle dysfunction. Our intent is to increase the pediatric neurologist's familiarity with these conditions and thus improve decision making in the areas of diagnosis and treatment.
Darras
B T
BT
Neuromuscular Program, Department of Neurology, Children's Hospital, Harvard Medical School, Massachusetts, USA.
Friedman
N R
NR
D006008:Glycogen Storage Disease / Q000150:complications; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications; D008661:Metabolism, Inborn Errors / Q000150:complications*; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism; D009135:Muscular Diseases / Q000178:diet therapy / Q000235:genetics* / Q000378:metabolism*; D013577:Syndrome