Metabolic myopathies

被引：25

作者：

DiMauro S. ^{[1
]}

Garone C. ^{[1
]}

Naini A. ^{[1
]}

机构：

[1] Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY 10032

来源：

Current Rheumatology Reports | 2010年 / 12卷 / 5期

基金：

美国国家卫生研究院;

关键词：

Aglycogenosis; Glycogenoses; Lipid storage myopathies; Mitochondrial myopathies;

D O I：

10.1007/s11926-010-0119-9

中图分类号：

学科分类号：

摘要：

We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen ("aglycogenosis"). These include defects of glycogen synthetase and defects of glycogenin, the primer of glycogen synthesis. Considerable progress also has been made in our understanding of alterations of glycogen metabolism that result in polyglucosan storage. Among the disorders of lipid metabolism, mutations in the genes encoding two triglyceride lipases acting hand in hand cause severe generalized lipid storage myopathy, one associated with ichthyosis (Chanarin-Dorfman syndrome), the other dominated by juvenile-onset weakness. For the mitochondrial myopathies, we discuss the importance of homoplasmic mitochondrial DNA mutations and review the rapid progress made in our understanding of the coenzyme Q10 deficiencies, which are often treatable. © Springer Science+Business Media, LLC 2010.

引用

页码：386 / 393

页数：7

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