In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
about
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathyMyofibrillar myopathiesCyclic AMP-Rap1A signaling mediates cell surface translocation of microvascular smooth muscle α2C-adrenoceptors through the actin-binding protein filamin-2Filamins in mechanosensing and signaling.A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patientsExome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic originsDifferential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathyTwo desmin gene mutations associated with myofibrillar myopathies in Polish familiesMutations in the N-terminal actin-binding domain of filamin C cause a 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.The costamere bridges sarcomeres to the sarcolemma in striated muscle.Myofibrillar myopathies.Filamin C-related myopathies: pathology and mechanisms.Mitochondrial abnormalities in the myofibrillar myopathies.Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.FLNC Gene Splice Mutations Cause Dilated CardiomyopathyFLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.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.Ultrastructural changes in LGMD1F
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 03 December 2008
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
In-frame deletion in the seven ...... ily with myofibrillar myopathy
@en
In-frame deletion in the seven ...... ly with myofibrillar myopathy.
@nl
type
label
In-frame deletion in the seven ...... ily with myofibrillar myopathy
@en
In-frame deletion in the seven ...... ly with myofibrillar myopathy.
@nl
prefLabel
In-frame deletion in the seven ...... ily with myofibrillar myopathy
@en
In-frame deletion in the seven ...... ly with myofibrillar myopathy.
@nl
P2093
P2860
P50
P356
P1476
In-frame deletion in the seven ...... ily with myofibrillar myopathy
@en
P2093
Anna Kaminska
Bertrand Goudeau
David Hilton-Jones
Hans H Goebel
Hee-Suk Lee
Isidro Ferrer
Kate Bushby
Kerstin Irlbacher
Lev G Goldfarb
Marinos C Dalakas
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P2888
P304
P356
10.1038/EJHG.2008.226
P577
2008-12-03T00:00:00Z