Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy [PDF]
Frontiers in Genetics, 2023 Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments.
Cristina Skrypnyk
exaly +6 more sources
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8 [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth.
Sheng Yi, Zailong Qin, Haiyang Zheng
exaly +7 more sources
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8 [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Homozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokinesia, joint contractures ...
Haiming Yuan +2 more
exaly +5 more sources
A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing [PDF]
Neonatal Medicine, 2021 Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset.
Yoong-A Suh +2 more
exaly +3 more sources
KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report [PDF]
GenesBackground: Mutations in the KLHL40 gene are a common cause of severe or even lethal nemaline myopathy. Some cases with mild forms have been described, although the cases are still anecdotal. The aim of this paper was to systematically review the cases described in the literature and to describe a 12-year clinical and imaging follow-up in an Italian ...
Bianca Buchignani +2 more
exaly +4 more sources
Case Report: Prenatal Diagnosis of Nemaline Myopathy [PDF]
Frontiers in Pediatrics, 2022 Nemaline myopathy (NM) is a rare, hereditary heterogeneous myopathy. Fetal NM has a more severe disease course and a poorer prognosis and is usually lethal during the first few months of life.
Dongmei Liu +21 more
exaly +4 more sources
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset [PDF]
eLife, 2023 Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy.
Arian Mansur +17 more
doaj +2 more sources
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy.
Kit San Yeung +17 more
doaj +3 more sources
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) [PDF]
Neuromuscular Disorders, 2016 Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy.
Andréea M Seferian +2 more
exaly +5 more sources
Post-infarction KLHL40-mediated regulation of cardiac sarcomeric integrity and function [PDF]
PeerJBackground Cardiac sarcomeric remodeling after myocardial infarction (MI) plays a pivotal role in post-injury cardiac dysfunction, yet the molecular mechanisms governing this process remain incompletely understood.
Xiao Yu +12 more
doaj +3 more sources