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… (More)
National Institutes of Health

Related topics

Related topics

22 relations
ACTA1 geneAutosomal dominant inheritanceAutosomal recessive inheritanceBlepharoptosis
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Broader (1)

Congenital Structural Myopathy

Papers overview

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Review
2018
Review
2018
Accomplishments and Impact from Breeding for Increased Forage Nutritional Value
Despite considerable rhetoric, there were no serious efforts to improve genetically the nutritional value of forage crops until… (More)
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Review
2017
Review
2017
Dietary fiber and prebiotics and the gastrointestinal microbiota
The gastrointestinal microbiota has an important role in human health, and there is increasing interest in utilizing dietary… (More)
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Review
2011
Review
2011
Congenital fiber-type disproportion.
Congenital fiber-type disproportion is a form of congenital myopathy that may be best viewed as a syndrome rather than as a… (More)
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Highly Cited
2008
Highly Cited
2008
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
OBJECTIVE Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy in which the principal histological… (More)
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2007
2007
The pathogenesis of ACTA1-related congenital fiber type disproportion.
OBJECTIVE Mutations in ACTA1 have been associated with a variety of changes in muscle histology that likely result from… (More)
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Highly Cited
2006
Highly Cited
2006
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
OBJECTIVE Our first objective was to determine whether SEPN1 gene mutations are a cause of congenital fiber-type disproportion… (More)
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Highly Cited
2002
Highly Cited
2002
Gravimetric determination of amylase-treated neutral detergent fiber in feeds with refluxing in beakers or crucibles: collaborative study.
As an important constituent of animal feeds, fiber represents the portion of feeds that is bulky and difficult to digest. The… (More)
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Highly Cited
2001
Highly Cited
2001
DIET , LIFESTYLE , AND THE RISK OF TYPE 2 DIABETES MELLITUS IN WOMEN
A BSTRACT Background Previous studies have examined individual dietary and lifestyle factors in relation to type 2 diabetes, but… (More)
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Highly Cited
1997
Highly Cited
1997
Dietary fiber, glycemic load, and risk of non-insulin-dependent diabetes mellitus in women.
OBJECTIVE To examine prospectively the relationship between glycemic diets, low fiber intake, and risk of non-insulin-dependent… (More)
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Highly Cited
1997
Highly Cited
1997
Dietary fiber, glycemic load, and risk of NIDDM in men.
OBJECTIVE Intake of carbohydrates that provide a large glycemic response has been hypothesized to increase the risk of NIDDM… (More)
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