Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
about
Filamin and phospholipase C-ε are required for calcium signaling in the Caenorhabditis elegans spermathecaCyclic AMP-Rap1A signaling mediates cell surface translocation of microvascular smooth muscle α2C-adrenoceptors through the actin-binding protein filamin-2Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyNovel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.Filamin C-related myopathies: pathology and mechanisms.Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.FLNC Gene Splice Mutations Cause Dilated CardiomyopathyFilamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.Myofibrillar instability exacerbated by acute exercise in filaminopathy.A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.
P2860
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P2860
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@ast
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@en
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@nl
type
label
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@ast
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@en
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@nl
prefLabel
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@ast
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@en
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@nl
P2093
P50
P1433
P1476
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
@en
P2093
A Jordanova
C Ceuterick-de Groote
E De Vriendt
E Reyniers
G Hadjidekov
P304
P356
10.1212/WNL.0B013E31823DC51E
P407
P577
2011-11-30T00:00:00Z