Tsujino S, Nonaka I, DiMauro S
Section Chief, Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Neurol Clin. 2000 Feb;18(1):125-50. doi: 10.1016/s0733-8619(05)70181-x.
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.
糖原贮积性肌病是由糖原分解途径或糖酵解途径中的酶缺陷引起的，仅影响骨骼肌或与其他组织一起受影响。作者回顾了该领域的最新发现，包括一个新的病种——醛缩酶缺乏症，以及迅速积累的大量分子遗传学数据。尽管取得了这一进展，但在大多数糖原贮积性肌病中，基因型与表型的相关性仍不明确。
