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Central Core Disease
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
RYR1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Ryanodine receptor 1
Ryanodine receptor, SPRY domain 3
Ryanodine receptor, SPRY domain 1
Ryanodine receptor, SPRY domain 2
Ryanodine receptor Ryr
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Myopathy
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
A case of dermatomyositis in a patient with central core disease: unusual association with autoimmun…
Clinical characteristics and genetic analysis of a pedigree affected with neonatal central core dise…
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core…
Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fib…
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Clinical Trials
Most Relevant Clinical Trials
The Effects of Pilates-Based Core Stabilization Training in Multiple Sclerosis
Central Sensitization in Familial Mediterranean Fever (FMF)
Study of a New Clinical Device for Reducing Body Core Temperature
Wake Forest Alzheimer's Disease Clinical Core
Pill Study Hyperthermia Device (Heckel HT 3000): Monitoring Core Body Temperature Using Wireless Tec…
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