Article

A <i>KLHL40</i> 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

2022-08-10

Abstract excerpt

Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene ( KLHL40 ). Common features include fetal akinesia, fractures, contractures, dysphagia, respiratory failure, and neonatal death. Here, we describe a man in his 20s with relatively mild NEM8. He presented with hypotonia and bilateral femur fractures at birth, later developin...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2b42d4af-9005-5a63-8e14-66f658c41a42
DOI: 10.1101/2022.08.08.22278402

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A <i>KLHL40</i> 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanismDOI 10.1101/2022.08.08.22278402Read

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.Semantic proximity Read

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Semantic proximity Read

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.Semantic proximity Read

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).Semantic proximity Read

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8Semantic proximity Read

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.Semantic proximity Read

Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8.Semantic proximity Read

Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequenceSemantic proximity Read

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.Semantic proximity Read

The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.Semantic proximity Read

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.Semantic proximity Read

Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.Semantic proximity Read