Congenital myopathies: an update.
Congenital myopathies: an update.
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DOI：
10.1007/s11910-012-0255-x
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发表时间：
2012-04
影响因子：
5.6
通讯作者：
Boennemann, Carsten G.
中科院分区：
文献类型：
--
作者：
Nance, Jessica R.;Dowling, James J.;Gibbs, Elizabeth M.;Boennemann, Carsten G.
关键词：
Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated.
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影响因子：
4.5
作者：
Dowling, James J.;Vreede, Andrew P.;Low, Sean E.;Gibbs, Elizabeth M.;Kuwada, John Y.;Bonnemann, Carsten G.;Feldman, Eva L.
通讯作者：
Feldman, Eva L.
影响因子：
4.8
作者：
Chandra, Murali;Mamidi, Ranganath;Granzier, Henk
通讯作者：
Granzier, Henk
影响因子：
11.2
作者：
Amburgey, Kimberly;McNamara, Nancy;Dowling, James J.
通讯作者：
Dowling, James J.
影响因子：
2.8
作者：
de Haan, A;van der Vliet, MR;van Engelen, BGM
通讯作者：
van Engelen, BGM
DOI：
10.2106/00004623-198870070-00015
发表时间：
1988-08-01
影响因子：
5.3
作者：
GAMBLE, JG;RINSKY, LA;LEE, JH
通讯作者：
LEE, JH