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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

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2010
2010
A Novel Return-to-Zero FSK Format for 40-Gb/s Transmission System Applications
In this paper, we present the generation, the detection and the performance evaluation of a novel return-to-zero frequency shift… 
2003
2003
A high-gain EDFA design using double-pass amplification with a double-pass filter
An erbium-doped fiber (EDF) amplifier configured in a double-pass amplification scheme together with a midway bandpass filter is… 
Highly Cited
2002
Highly Cited
2002
Optical Fiber Communication
Review
2001
Review
2001
Dietary fiber overview.
In 1953, Hipsley first used ‘‘dietary fiber’’ to designate nondigestible plant cell wall constituents. Between 1972 and 1976… 
Highly Cited
1998
Highly Cited
1998
Fiber Optics in Astronomy III
Highly Cited
1997
Highly Cited
1997
A multiwavelength fiber ring-laser employing a pair of silica-based arrayed-waveguide-gratings
A multiwavelength fiber ring-laser employing a pair of silica-based arrayed-waveguide-gratings (AWGs) is proposed to easily… 
1997
1997
Efeito da qualidade de variedades de cana-de-açúcar sobre seu valor como alimento para bovinos
O objetivo do trabalho foi avaliar variedades de cana-de-acucar ( Saccharum officinarum L.), baseando-se em parâmetros que… 
1982
1982
Variability for quality and agronomic traits in forage sorghum hybrids
The variation among 49 F1 forage sorghum [Sorghum bicolor (L.) Moench] hybrids from a 7 x 7 cross-classified design was explored… 
1981
1981
Congenital muscle fiber-type disproportion in Krabbe's leukodystrophy.
Progressive spasticity, blindness, loss of skills, and neuropathy developed in a 4.5-month-old boy. When examined at 13 months… 
1981
1981
Development and clinical evaluation of hollow fiber membrane oxygenator.