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

Trismus‐pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

14 Oct 2006

Abstract excerpt

Trismus-pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant distal arthrogryposis (DA) characterized by an inability to open the mouth fully (trismus) and an unusual camptodactyly of the fingers that is apparent only upon dorsiflexion of the wrist (i.e., pseudocamptodactyly). TPS is also known as Dutch-Kentucky syndrome because a Dutch founder mutation is presumed to be the origin of TPS cases in the...

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 Muscle Physiology and Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 17041932
DOI: 10.1002/ajmg.a.31495

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Trismus‐pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8PMID 17041932Read ↗

Mutation of perinatal myosin heavy chain associated with a Carney complex variant.Semantic proximity Read ↗

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.Semantic proximity Read ↗

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

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

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3Semantic proximity Read ↗

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

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

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

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.Semantic proximity Read ↗

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