Glycogen storage myopathies

Citation
S. Tsujino et al., Glycogen storage myopathies, NEUROL CLIN, 18(1), 2000, pp. 125
Citations number
138
Categorie Soggetti
Neurology
Journal title
NEUROLOGIC CLINICS
ISSN journal
07338619 → ACNP
Volume
18
Issue
1
Year of publication
2000
Database
ISI
SICI code
0733-8619(200002)18:1<125:GSM>2.0.ZU;2-C
Abstract
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.