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KLHL40 gene

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

Topic mentions per year

Topic mentions per year

1997-2017
02419972017

Related topics

Related topics

2 relations
KBTBD4 geneNEMALINE MYOPATHY 8

Related mentions per year

Related mentions per year

1997-2018
1990200020102020
KLHL40 gene
KBTBD4 gene
NEMALINE MYOPATHY 8

Papers overview

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2016
2016
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies… (More)
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2016
2016
Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence…
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
Mutation-specific effects on thin filament length in thin filament myopathy.
OBJECTIVE Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by… (More)
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2016
2016
[A case of KLHL40 mutation related nemaline myopathy].
 
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2015
2015
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
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
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state.
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
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
BACKGROUND Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually… (More)
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2013
2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
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
Kbtbd5 is regulated by MyoD and restricted to the myogenic lineage.
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
beta-Hydroxylation of the aspartyl residue in the phytotoxin syringomycin E: characterization of two candidate hydroxylases AspH and SyrP in Pseudomonas syringae.
The pseudomonal phytotoxin syringomycin E and related nonribosomal peptides contain an L- threo-beta-hydroxyaspartyl residue at… (More)
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