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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… 
2016
2016
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… 
2016
2016
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
Review
2015
Review
2015
Congenital myopathies
Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross… 
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… 
Highly Cited
2013
Highly Cited
2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
2013
2013
Kbtbd5 is regulated by MyoD and restricted to the myogenic lineage.
Highly Cited
2008
Highly Cited
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… 
Review
2008
Review
2008
Introduction to the Survey of Youth in Residential
The bulletin describes the survey’s design and methodology. It also provides an overview of the remaining bulletins in the series… 
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… 
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