The glycogen storage myopathies are caused by enzyme defects in the glycoge
nolytic 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 molecu
lar genetic data that are rapidly accumulating. Despite this progress, geno
type-phenotyp3 correlations are still murky in most glycogen storage myopat
hies.