RYR1 mutations are a common cause of congenital myopathies with central nuclei.
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Pathogenic mechanisms in centronuclear myopathiesJP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptorCongenital myopathies: an updateRespiratory assessment in centronuclear myopathiesApproach to the diagnosis of congenital myopathiesSwimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.Review of RyR1 pathway and associated pathomechanismsPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusNormal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenanceEpigenetic changes as a common trigger of muscle weakness in congenital myopathies.Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.Myopathic causes of exercise intolerance with rhabdomyolysis.Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeAn integrated diagnosis strategy for congenital myopathies.Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 geneAlterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscleT-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.Triadopathies: an emerging class of skeletal muscle diseases.Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathyRhabdomyolysis: a genetic perspective.Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyThe influence of DNA sequence on epigenome-induced pathologies.Clinical utility gene card for: Centronuclear and myotubular myopathies.Sarcolipin deletion exacerbates soleus muscle atrophy and weakness in phospholamban overexpressing mice.Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortLarge duplication in MTM1 associated with myotubular myopathy.Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Functional characterization of orbicularis oculi and extraocular muscles
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P2860
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
@en
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
@nl
type
label
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
@en
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
@nl
prefLabel
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
@en
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
@nl
P2093
P2860
P356
P1433
P1476
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
@en
P2093
A Y Manzur
C Boennemann
C R Müller
H Henderson
J J Dowling
J M Wilmshurst
P2860
P304
P356
10.1002/ANA.22119
P577
2010-11-01T00:00:00Z