Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Neuromuscular disorders : NMD - 1 Oct 2016

Seferian Andreea M, Malfatti Edoardo, Bosson Caroline, Pelletier Laurent, Taytard Jessica, Forin Veronique, Gidaro Teresa, Gargaun Elena, Carlier Pierre, Fauré Julien, Romero Norma B, Rendu John, Servais Laurent

Abstract excerpt

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. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microtubule and mitosis dynamics

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Mutation

Share to Myopathies, Nemaline

Share to Phenotype

Source

Identifiers

PMID: 27528495
DOI: 10.1016/j.nmd.2016.07.011

Genes

KLHL40

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).PMID 27528495Read ↗

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 ↗

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

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing 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 ↗

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

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

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.Semantic proximity Read ↗

Recent advances in nemaline myopathy.Semantic proximity Read ↗

Nemaline myopathies: a current viewSemantic proximity Read ↗

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.