The hereditary inclusion body myopathy enigma and its future therapy

被引：24

作者：

Argov, Zohar ^{[1
]}

Mitrani-Rosenbaum, Stella ^{[2
]}

机构：

[1] Hadassah Univ Hosp, Dept Neurol, Med Ctr, IL-91120 Jerusalem, Israel

[2] Hadassah Univ Hosp, Goldyne Savad Inst Gene Therapy, Med Ctr, IL-91120 Jerusalem, Israel

来源：

NEUROTHERAPEUTICS | 2008年 / 5卷 / 04期

基金：

以色列科学基金会;

关键词：

hereditary inclusion body myopathy; sialic acid; GNE gene; distal myopathy;

D O I：

10.1016/j.nurt.2008.07.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Hereditary inclusion body myopathy (HIBM) is a genetic muscle disease due to mutations in the gene encoding the enzyme complex UDP-N-acetylglucosamine 2 epimerase-N-acetylmannosamine kinase (GNE), which catalyzes the rate-limiting step in sialic acid production. The review describes some of the disease features that may be relevant for further understanding of the metabolic impairment of HIBM and its future therapy. It also addresses the biochemical basis behind the substrate supplementation therapy designed for this condition.

引用

页码：633 / 637

页数：5

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