Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
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Approach to the diagnosis of congenital myopathiesEpigenetic changes as a common trigger of muscle weakness in congenital myopathies.DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis.Caveolin 3 is associated with the calcium release complex and is modified via in vivo triadin modification.An exome sequencing strategy to diagnose lethal autosomal recessive disorders.Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibilityMulti-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthRyanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.Genotype-phenotype correlations in recessive RYR1-related myopathies.A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsFunctional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Clinical utility gene card for: Multi-minicore disease.Clinical utility gene card for: Central core disease.Excitation-Contraction Coupling Alterations in Myopathies.Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.RYR1 causing distal myopathy.Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesRecessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencingA Rare Case of Severe Congenital RYR1-Associated Myopathy
P2860
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P2860
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
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2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
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name
Null mutations causing depleti ...... genital myopathies with cores.
@en
Null mutations causing depletion of the type 1 ryanodine receptor
@nl
type
label
Null mutations causing depleti ...... genital myopathies with cores.
@en
Null mutations causing depletion of the type 1 ryanodine receptor
@nl
prefLabel
Null mutations causing depleti ...... genital myopathies with cores.
@en
Null mutations causing depletion of the type 1 ryanodine receptor
@nl
P2093
P2860
P50
P356
P1433
P1476
Null mutations causing depleti ...... ngenital myopathies with cores
@en
P2093
Ana Ferreiro
Anneke Van der Kooi
Annick Rossi
Annie Laquerriere
Brigitte Estournet
Claude Desnuelle
Corien Verschuuren
Eva Morava
Isabelle Marty
Jean-Jacques Martin
P2860
P304
P356
10.1002/HUMU.20696
P577
2008-05-01T00:00:00Z