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Article

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.

The Journal of bone and joint surgery. American volume - 1 Jun 2011

Alvarado David M, Buchan Jillian G, Gurnett Christina A, Dobbs Matthew B

Abstract excerpt

BACKGROUND: Few genes responsible for distal arthrogryposis type 1 are known, although genes coding for the proteins in the sarcomere have been implicated in other types of distal arthrogryposis. Cost-effective sequencing methods are now available to examine all genes in the human genome for the purpose of establishing the genetic basis of musculoskeletal disorders. METHODS: A multigenerational family with distal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21531865
DOI: 10.2106/JBJS.J.02004
PMCID: PMC3102311

Genes

MYH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.PMID 21531865Read ↗

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

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

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.Semantic proximity Read ↗

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