KLHL40 gene

Known as: nemaline myopathy type 8, KLHL40, NEM8 
 
National Institutes of Health

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Topic mentions per year

1997-2017
02419972017

Papers overview

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2016
2016
Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies… (More)
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2016
2016
BACKGROUND Fetal akinesia deformation sequence (FADS) refers to a broad spectrum of disorder with the absent fetal movement as… (More)
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2016
2016
OBJECTIVE Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by… (More)
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2016
2016
 
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2015
2015
Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle… (More)
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2015
2015
We report a case of nemaline myopathy with KLHL40 mutation, presenting as congenital totally locked-in state. At birth, a male… (More)
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2015
2015
BACKGROUND Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually… (More)
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2013
2013
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically… (More)
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2013
2013
BTB-BACK-Kelch (BBK) proteins play broad roles in cellular and molecular regulation. The role of BBK proteins in the skeletal… (More)
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2008
2008
The pseudomonal phytotoxin syringomycin E and related nonribosomal peptides contain an L- threo-beta-hydroxyaspartyl residue at… (More)
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