Central Core Myopathy (disorder)

Known as: Central Core Disease of Muscle, CCD, Central Core Myopathies 
An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are… (More)
National Institutes of Health

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Autosomal dominant inheritanceAutosomal recessive inheritanceConnective and Soft TissueFlatfoot
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Chudley-Rozdilsky syndromeNEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)

Papers overview

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Highly Cited
2012
Highly Cited
2012
Aggregating Local Image Descriptors into Compact Codes
This paper addresses the problem of large-scale image search. Three constraints have to be taken into account: search accuracy… (More)
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Highly Cited
2011
Highly Cited
2011
Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture.
Genomic stability is critical for the clinical use of human embryonic and induced pluripotent stem cells. We performed high… (More)
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Highly Cited
2006
Highly Cited
2006
Ultra-high resolution imaging by fluorescence photoactivation localization microscopy.
Biological structures span many orders of magnitude in size, but far-field visible light microscopy suffers from limited… (More)
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Highly Cited
2003
Highly Cited
2003
Gene expression profiling for the prediction of therapeutic response to docetaxel in patients with breast cancer
BACKGROUND Systemic chemotherapy for operable breast cancer substantially decreases the risk of death. Patients often have de… (More)
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Highly Cited
2002
Highly Cited
2002
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
Multi-minicore disease is an autosomal recessive congenital myopathy characterized by the presence of multiple, short-length core… (More)
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Review
2000
Review
2000
Ryanodine receptor mutations in malignant hyperthermia and central core disease.
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that manifests in response to anesthetic triggering… (More)
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Highly Cited
2000
Highly Cited
2000
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
Central core disease (CCD) and nemaline myopathy (NM) are congenital myopathies for which differential diagnosis is often based… (More)
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Highly Cited
1999
Highly Cited
1999
Complex Shear Wave Velocity Structure Imaged Beneath Africa and Iceland.
A model of three-dimensional shear wave velocity variations in the mantle reveals a tilted low velocity anomaly extending from… (More)
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Highly Cited
1993
Highly Cited
1993
A mutation in the human ryanodine receptor gene associated with central core disease
Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close… (More)
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Highly Cited
1993
Highly Cited
1993
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
Central core disease (CCD) of muscle is an inherited myopathy which is closely associated with malignant hyperthermia (MH) in… (More)
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