Central core disease: clinical, pathological, and genetic features
about
Malignant hyperthermiaMalignant hyperthermia: a reviewSilent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportMyopathic causes of exercise intolerance with rhabdomyolysis.Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal RegionAdolescent idiopathic scoliosis without limb weakness: a differential diagnosis of core myopathy?Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers.Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathyConsensus statement on standard of care for congenital myopathies.Functional 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.The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.Central core disease: atypical case with respiratory insufficiency in an intensive care unit.Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.
P2860
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P2860
Central core disease: clinical, pathological, and genetic features
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Central core disease: clinical, pathological, and genetic features
@ast
Central core disease: clinical, pathological, and genetic features
@en
Central core disease: clinical, pathological, and genetic features
@nl
type
label
Central core disease: clinical, pathological, and genetic features
@ast
Central core disease: clinical, pathological, and genetic features
@en
Central core disease: clinical, pathological, and genetic features
@nl
prefLabel
Central core disease: clinical, pathological, and genetic features
@ast
Central core disease: clinical, pathological, and genetic features
@en
Central core disease: clinical, pathological, and genetic features
@nl
P2093
P2860
P356
P1476
Central core disease: clinical, pathological, and genetic features
@en
P2093
A P Roberts
C R Muller
R M Quinlivan
P2860
P304
P356
10.1136/ADC.88.12.1051
P407
P577
2003-12-01T00:00:00Z