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Congenital Fiber Type Disproportion

Known as: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, Fiber-type disproportion, FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL 
A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern… 
National Institutes of Health

Papers overview

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2020
2020
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement… 
Highly Cited
2007
Highly Cited
2007
A novel elliptical-hole photonic crystal fiber (PCF) with double defect is theoretically investigated, and its high birefringence… 
Review
2007
Review
2007
In this paper, we review our recent developments in the design and fabrication techniques for high-channel-count fiber Bragg… 
Highly Cited
2003
Highly Cited
2003
Silica photonic crystal fiber (PCF) is a new type of fiber that has an array of microscopic air holes running along its length… 
1999
1999
Cardiac involvement has not been a reported feature of congenital fiber-type disproportion myopathy. We describe two children… 
Highly Cited
1997
Highly Cited
1997
Abstract The clinical usefulness of continuous E-glass partial fiber reinforcement of acrylic resin removable dentures was… 
Highly Cited
1992
Highly Cited
1992
1. These experiments were performed to test the hypothesis that climbing fiber inputs to sagittally aligned Purkinje cells… 
Review
1979
Review
1979
The peritoneal dialysis system can be considered as nature’s version of a capillary kidney [1]. Peritoneal dialysis probably…