Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

被引：0

作者：

Han-Xiang Deng

Christopher J Klein

Jianhua Yan

Yong Shi

Yanhong Wu

Faisal Fecto

Hau-Jie Yau

Yi Yang

Hong Zhai

Nailah Siddique

E Tessa Hedley-Whyte

Robert DeLong

Marco Martina

Peter J Dyck

Teepu Siddique

机构：

[1] Northwestern University Feinberg School of Medicine,Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences

[2] Mayo Clinic Foundation,Department of Neurology, Division of Peripheral Nerve Diseases

[3] Mayo Clinic Foundation,Department of Laboratory Medicine and Pathology

[4] Northwestern University Feinberg School of Medicine,Interdepartmental Neuroscience Program

[5] Northwestern University Feinberg School of Medicine,Department of Physiology

[6] Massachusetts General Hospital,Department of Pathology

[7] Harvard Medical School,Department of Pediatrics

[8] Duke University Medical School,undefined

来源：

Nature Genetics | 2010年 / 42卷

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摘要：

Han-Xiang Deng, Teepu Siddique and colleagues report that scapuloperoneal spinal muscular atrophy and hereditary motor and sensory neuropathy type IIC are allelic disorders caused by mutations in TRPV4. Their functional studies indicate that the mutations result in increased calcium channel activity.

引用

页码：165 / 169

页数：4

共 32 条

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