Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy

被引：4

作者：

Bertini, Enrico ^{[1
]}

Houlden, Henry ^{[2
]}

机构：

[1] Bambino Gesu Childrens Res Hosp, Unit Neuromuscular & Neurodegenerat Disorders, Mol Med Lab, Rome, Italy

[2] UCL, Mol Neurosci Dept, UCL Inst Neurol, Natl Hosp Neurol & Neurosurg, London WC1E 6BT, England

来源：

NEUROLOGY | 2014年 / 82卷 / 15期

基金：

英国医学研究理事会;

关键词：

RESPIRATORY-DISTRESS TYPE-1; MUTATIONS; GENE; PATHWAY; DISEASE;

D O I：

10.1212/WNL.0000000000000321

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Childhood spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous group of inherited neuromuscular disorders, characterized by degeneration of motor neurons of the spinal cord leading to progressive atrophy of skeletal muscles and paralysis. The most frequent form is inherited as an autosomal recessive trait and is due to mutations of the survival motor neuron 1, telomeric (SMN1)(1) gene manifesting with a proximal distribution of weakness of legs and arms. The other forms of SMAs are rare disorders differing by their mode of inheritance, the topography of the muscle deficit, or the association with other neurologic abnormalities.

引用

页码：1298 / 1299

页数：2

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