Glycogen storage myopathies.
The glycogen storage myopathies are caused by enzyme defects in the glycogenolytic or in the glycolytic pathway affecting skeletal muscle alone or in conjunction with other tissues. The authors review recent findings in this area, including a new entity, aldolase deficiency, and the wealth of molecular genetic data that are rapidly accumulating. Despite this progress, genotype-phenotyp3 correlations are still murky in most glycogen storage myopathies.
Tsujino
S
S
Section Chief, Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Nonaka
I
I
DiMauro
S
S
D001706:Biopsy; D003937:Diagnosis, Differential; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency; D005838:Genotype; D006003:Glycogen / Q000235:genetics; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006019:Glycolysis / Q000235:genetics; D006801:Humans; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010641:Phenotype
D006003:Glycogen; D005634:Fructose-Bisphosphate Aldolase