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

Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.

Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2025

Mouraux Charlotte, Fouquet Claire, Durkin Keith, Dideberg Vinciane, Bulk Saskia, Aktan David, Artesi Maria, Depierreux Frédérique

Abstract excerpt

Introduction: Heterozygous pathogenic variants in MYH3 are known to be responsible for distal arthrogryposis. Case report: We report a consanguineous family of four children with two likely pathogenic MYH3 homozygous variants associated with complex movement disorders, especially prominent lingual dystonia, along with skeletal abnormalities. The two variants in MYH3 (c.3445G>A and c.4760T>C) have already been...

Read the complete abstract on PubMed

Topics

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

Share to Dystonia
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Arthrogryposis

Share to Consanguinity

Share to Cytoskeletal Proteins

Share to Myosin Heavy Chains

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 41180161
DOI: 10.5334/tohm.1079
PMCID: PMC12577538

Genes

MYH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.PMID 41180161Read ↗

Clinical and Molecular Heterogeneity of MYH3-Related Arthrogryposis with a Novel MYH3 Variant.Semantic proximity Read ↗

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.Semantic proximity Read ↗

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.Semantic proximity Read ↗

Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.Semantic proximity Read ↗

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?Semantic proximity Read ↗

Molecular etiology of arthrogryposis in multiple families of mostly Turkish originSemantic proximity Read ↗

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.Semantic proximity Read ↗

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.Semantic proximity Read ↗

Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.Semantic proximity Read ↗

A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).Semantic proximity Read ↗

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Semantic proximity Read ↗

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.Semantic proximity Read ↗

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