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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

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
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: 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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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
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
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
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
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
Highly Cited
1997
Highly Cited
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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