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

被引：0
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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.
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页码：165 / 169
页数：4
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