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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

Related topics

Related topics

22 relations
ACTA1 geneAutosomal dominant inheritanceAutosomal recessive inheritanceBlepharoptosis

Broader (1)

Congenital Structural Myopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Congenital Fiber-Type Disproportion
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement… 
Highly Cited
2008
Highly Cited
2008
Recent process improvements for the ammonia fiber expansion (AFEX) process and resulting reductions in minimum ethanol selling price.
Highly Cited
2007
Highly Cited
2007
Highly Birefringent Elliptical-Hole Photonic Crystal Fibers With Double Defect
A novel elliptical-hole photonic crystal fiber (PCF) with double defect is theoretically investigated, and its high birefringence… 
Review
2007
Review
2007
Advances in the Design and Fabrication of High-Channel-Count Fiber Bragg Gratings
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
Development of a system for laser splicing photonic crystal fiber.
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 Manifestations of Congenital Fiber-Type Disproportion Myopathy
Cardiac involvement has not been a reported feature of congenital fiber-type disproportion myopathy. We describe two children… 
Highly Cited
1997
Highly Cited
1997
Glass fiber reinforcement in repaired acrylic resin removable dentures: preliminary results of a clinical study.
Abstract The clinical usefulness of continuous E-glass partial fiber reinforcement of acrylic resin removable dentures was… 
Highly Cited
1993
Highly Cited
1993
Is large myelinated fiber loss associated with hyperalgesia in a model of experimental peripheral neuropathy in the rat?
Highly Cited
1992
Highly Cited
1992
Responses of sagittally aligned Purkinje cells during perturbed locomotion: synchronous activation of climbing fiber inputs.
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.
The peritoneal dialysis system can be considered as nature’s version of a capillary kidney [1]. Peritoneal dialysis probably… 
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