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KLHL40 gene

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

Related topics

Related topics

2 relations
KBTBD4 geneNEMALINE MYOPATHY 8

Papers overview

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2019
2019
Nemaline myopathies: a current view
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited… Expand
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2019
2019
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.
KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40… Expand
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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… Expand
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Highly Cited
2015
Highly Cited
2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
BackgroundFetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually… Expand
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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… Expand
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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… Expand
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Highly Cited
2013
Highly Cited
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… Expand
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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… Expand
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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… Expand
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1997
1997
Analysis of the syrP gene, which regulates syringomycin synthesis by Pseudomonas syringae pv. syringae.
Syringomycin is a lipodepsinonapeptide phytotoxin synthesized by Pseudomonas syringae pv. syringae on multienzymatic peptide… Expand
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