Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
about
Pathogenic mechanisms in centronuclear myopathiesDominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical coresMalignant hyperthermia: a reviewCongenital myopathies: an updateSwimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.Review of RyR1 pathway and associated pathomechanismsEpigenetic 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.SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyIdentical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.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.An integrated diagnosis strategy for congenital myopathies.T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyClinical utility gene card for: Centronuclear and myotubular myopathies.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.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.Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.Genotype-phenotype correlations in recessive RYR1-related myopathies.RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Core myopathies and malignant hyperthermia susceptibility: a review.Anesthetic considerations in myofibrillar myopathy.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation.Clinical utility gene card for: Multi-minicore disease.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.RYR1 causing distal myopathy.Congenital myopathies: clinical phenotypes and new diagnostic tools.Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies.Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesCorrelation of phenotype with genotype and protein structure in RYR1-related disordersCentronuclear myopathies under attack: A plethora of therapeutic targetsA Rare Case of Severe Congenital RYR1-Associated Myopathy
P2860
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P2860
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
description
2011 nî lūn-bûn
@nan
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
2011年论文
@zh
2011年论文
@zh-cn
name
Recessive RYR1 mutations cause ...... myofibrillar disorganization.
@en
Recessive RYR1 mutations cause ...... myofibrillar disorganization.
@nl
type
label
Recessive RYR1 mutations cause ...... myofibrillar disorganization.
@en
Recessive RYR1 mutations cause ...... myofibrillar disorganization.
@nl
prefLabel
Recessive RYR1 mutations cause ...... myofibrillar disorganization.
@en
Recessive RYR1 mutations cause ...... myofibrillar disorganization.
@nl
P2093
P2860
P1476
Recessive RYR1 mutations cause ...... myofibrillar disorganization.
@en
P2093
A Ferreiro
A L Taratuto
A Laquerrière
F Lubieniecki
J A Bevilacqua
K G Claeys
P2860
P304
P356
10.1111/J.1365-2990.2010.01149.X
P577
2011-04-01T00:00:00Z