Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

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http://www.wikidata.org/entity/Q43148583
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 GeneFour and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).Fhl1 W122S causes loss of protein function and late-onset mild myopathy.Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneReducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac DeathMyofibrillar myopathies.Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.The LINC complex and human disease.The interactome of LIM domain proteins: the contributions of LIM domain proteins to heart failure and heart development.The sarcomeric M-region: a molecular command center for diverse cellular processes.Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.Identification of an FHL1 protein complex containing ACTN1, ACTN4, and PDLIM1 using affinity purifications and MS-based protein-protein interaction analysisIdentification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.
P2860

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

Item
http://www.wikidata.org/entity/Q43148583
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
@en
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
@nl
type
label
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
@en
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
@nl
prefLabel
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
@en
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698