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Article

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Clinical genetics - 1 Oct 2024

Morali Burcin, Miranda Valancy, Raelson John, Grimard Guy, Glavas Peter, Audibert François, Dumont Nicolas A, Barone Julia, Bamshad Michael, Lemyre Emmanuelle, Campeau Philippe M

Abstract excerpt

Arthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1/3000 and 1/5000 live births. Variants in multiple genes have been associated with distal arthrogryposis syndromes. Heterozygous variants in MYH3 have been identified to cause the dominantly-inherited distal arthrogryposis conditions, Freeman-Sheldon syndrome, Sheldon-Hall...

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Identifiers

PMID: 38856159
DOI: 10.1111/cge.14570

Genes

MYH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.PMID 38856159Read ↗

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

Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.Semantic proximity Read ↗

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

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

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.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 MYH3Semantic proximity Read ↗

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

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersSemantic proximity Read ↗

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