X-linked myotubular myopathy

被引：41
|
作者：
Lawlor, Michael W. [1 ,2 ]
Dowling, James J. [3 ,4 ,5 ,6 ]
机构：
[1] Med Coll Wisconsin, Dept Pathol & Lab Med, Milwaukee, WI USA
[2] Med Coll Wisconsin, Neurosci Res Ctr, Milwaukee, WI USA
[3] Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
[4] Hosp Sick Children, Program Genet & Genome Biol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
[5] Univ Toronto, Dept Paediat, Toronto, ON, Canada
[6] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
来源：
NEUROMUSCULAR DISORDERS | 2021年 / 31卷 / 10期
基金：
美国国家卫生研究院; 加拿大健康研究院;
关键词：
DYNAMIN; 2; MUSCLE; MUTATIONS; AUTOPHAGY; PHENOTYPE; PHOSPHATASES; INHIBITION; EXPRESSION; DEFICIENT; SPECTRUM;
D O I：
10.1016/j.nmd.2021.08.003
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. XLMTM is clinically characterized by profound muscle weakness and associated with multiple disabilities (including ventilator and wheelchair dependence) and early death in most affected individuals. The disease is classically defined by characteristic changes observed on muscle biopsy, including centrally located nuclei, myofiber hypotrophy, and organelle disorganization. In this review, we highlight the clinical and pathologic features of the disease, present concepts related to disease pathomechanisms, and present recent advances in therapy development. (C) 2021 The Authors. Published by Elsevier B.V.
引用
收藏
页码：1004 / 1012
页数：9
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