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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… 
National Institutes of Health

Related topics

Related topics

22 relations
Autosomal dominant inheritanceAutosomal recessive inheritanceConnective and Soft TissueFlatfoot

Narrower (2)

Chudley-Rozdilsky syndromeNEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)

Papers overview

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Highly Cited
2012
Highly Cited
2012
CALTECH CORE-COLLAPSE PROJECT (CCCP) OBSERVATIONS OF TYPE II SUPERNOVAE: EVIDENCE FOR THREE DISTINCT PHOTOMETRIC SUBTYPES
We present R-band light curves of Type II supernovae (SNe) from the Caltech Core-Collapse Project (CCCP). With the exception of… 
Highly Cited
2012
Highly Cited
2012
DIMENSIONAL DEPENDENCE OF THE HYDRODYNAMICS OF CORE-COLLAPSE SUPERNOVAE
A major goal over the last decade has been understanding which multidimensional effects are crucial in facilitating core-collapse… 
Highly Cited
2006
Highly Cited
2006
Immobilization of cytochrome c oxidase into electrode-supported lipid bilayer membranes for in vitro cytochrome c sensing
Blood and tissue biochemical oxidation-reduction (redox) reactions are ubiquitous and are reflective of many important biological… 
Highly Cited
2005
Highly Cited
2005
Noninvasive imaging of protein‐protein interactions from live cells and living subjects using bioluminescence resonance energy transfer
This study demonstrates a significant advancement of imaging of a distance‐dependent physical process, known as the… 
Highly Cited
2003
Highly Cited
2003
Red-green-blue interferometer for the metrology of discontinuous structures.
Discontinuous surface profiles, e.g., diffractive optical elements (DOEs), are commonly measured by white-light interferometry… 
Highly Cited
1997
Highly Cited
1997
Pharmacokinetic studies on 5-aminolevulinic acid-induced protoporphyrin IX accumulation in tumours and normal tissues.
Highly Cited
1988
Highly Cited
1988
Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency
Thirteen of 15 patients with complex I deficiency had the multisystemic form, with strokelike episodes and other symptoms that… 
Highly Cited
1980
Highly Cited
1980
Central core disease and malignant hyperthermia syndrome
In a detailed investigation of a family with musculoskeletal abnormalities obsesrved in four generations, the probad and his… 
Highly Cited
1967
Highly Cited
1967
Neuronal trophic function. A new aspect demonstrated histochemically in developing soleus muscle.
THE neuronal trophic influence on developing skeletal muscle fibers has been the subject of speculation in attempts to understand… 
Highly Cited
1965
Highly Cited
1965
Congenital nonprogressive myopathy
CENTRAL CORE DISEASE was first described in 1956 by Shy and Mageel and called “a new congenital nonprogressive myopathy.” Five… 
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