[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement].
about
Distal myopathies: from clinical classification to molecular understanding.Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.
P2860
[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement].
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
[Myofibrillary myopathy due to ...... ively distal leg involvement].
@ast
[Myofibrillary myopathy due to ...... ively distal leg involvement].
@en
type
label
[Myofibrillary myopathy due to ...... ively distal leg involvement].
@ast
[Myofibrillary myopathy due to ...... ively distal leg involvement].
@en
prefLabel
[Myofibrillary myopathy due to ...... ively distal leg involvement].
@ast
[Myofibrillary myopathy due to ...... ively distal leg involvement].
@en
P2093
P2860
P1433
P1476
[Myofibrillary myopathy due to ...... ively distal leg involvement].
@en
P2093
P2860
P2888
P304
P356
10.1007/S00115-012-3689-0
P407
P577
2013-02-01T00:00:00Z
P6179
1047401185