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Article

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

Genes - 30 Jun 2026

Donato Annalidia, Vecchio Davide, Marinaro Caterina, Brando Rossella, Bauleo Alessia, Falcone Elena, Concolino Daniela

Abstract excerpt

BACKGROUND: Arthrogryposis consists of a heterogeneous group of congenital disorders characterized by multiple joint contractures. Distal arthrogryposes (DAs) are often caused by pathogenic variants in fast-twitch muscle protein genes, including MYH3, nosologically linked to DA2A and DA2B. METHODS: We evaluated two siblings with features suggestive of arthrogryposis through detailed clinical examination,...

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Identifiers

PMID: 42510802
DOI: 10.3390/genes17070762
PMCID: PMC13408948

Genes

MYH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Clinical and Molecular Heterogeneity of MYH3-Related Arthrogryposis with a Novel MYH3 Variant.PMID 42510802Read ↗

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

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

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

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

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

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

A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.Semantic proximity Read ↗

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

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.Semantic proximity Read ↗

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

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