Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9

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Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9

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作者：Voraluck Phatarakijnirund^a ; ^b ; ^{p.voraluck@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Steven Mumm^a ; ^b ; ^{smumm@dom.wustl.edu" class="auth_mail" title="E-mail the corresponding author} ; William H. McAlister^c ; ^{mcalisterw@mir.wustl.edu" class="auth_mail" title="E-mail the corresponding author} ; Deborah V. Novack^b ; ^{Novack@wustl.edu" class="auth_mail" title="E-mail the corresponding author} ; Deborah Wenkert^a ; ^{wenkert@i1.net" class="auth_mail" title="E-mail the corresponding author} ; Karen L. Clements^a ; ^{kclements@shrinenet.org" class="auth_mail" title="E-mail the corresponding author} ; Michael P. Whyte^a ; ^b ; ^{mwhyte@shrinenet.org" class="auth_mail" title="E-mail the corresponding author}
关键词：Charcot arthropathy ; Joint hypermobility ; Mineral homeostasis ; Skeletal homeostasis
刊名：Bone
出版年：2016
出版时间：March 2016
年：2016
卷：84
期：Complete
页码：289-298
全文大小：1313 K

文摘

class="label">•: Na_v1.9 channelopathy causes congenital insensitivity to pain with hypermobility.
class="label">•: The heterozygous missense mutation (c.3904C > T, p.Leu1302Phe) within SCN11A is novel.
class="label">•: Despite fracturing, mineral and skeletal homeostasis is normal.
class="label">•: Low-trauma fracturing suggests an uncharacterized defect in bone quality.
class="label">•: Perhaps early diagnosis can prevent bone and joint destruction.