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KLHL40 gene

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

Papers overview

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2020
2020
Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms… Expand
2019
2019
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited… Expand
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2016
2016
Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies… Expand
Highly Cited
2015
Highly Cited
2015
BackgroundFetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually… Expand
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2015
2015
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
We report a case of nemaline myopathy with KLHL40 mutation, presenting as congenital totally locked-in state. At birth, a male… Expand
Highly Cited
2013
Highly Cited
2013
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically… Expand
2013
2013
BTB-BACK-Kelch (BBK) proteins play broad roles in cellular and molecular regulation. The role of BBK proteins in the skeletal… Expand
2008
2008
The pseudomonal phytotoxin syringomycin E and related nonribosomal peptides contain an L- threo-beta-hydroxyaspartyl residue at… Expand
Highly Cited
1997
Highly Cited
1997
Syringomycin is a lipodepsinonapeptide phytotoxin synthesized by Pseudomonas syringae pv. syringae on multienzymatic peptide… Expand
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