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Article

Glycogen storage myopathies.

Neurologic clinics - 1 Feb 2000

Tsujino S, Nonaka I, DiMauro S

Abstract excerpt

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...

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PMID: 10658171
DOI: 10.1016/s0733-8619(05)70181-x

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