Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRP...
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
About this item
Full title
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Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Contents
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.
Scapuloperoneal spinal muscular atroph...
Alternative Titles
Full title
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786192
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786192
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.509
