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Article

Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.

Clinical orthopaedics and related research - 1 May 2009

Gurnett Christina A, Alaee Farhang, Desruisseau David, Boehm Stephanie, Dobbs Matthew B

Abstract excerpt

UNLABELLED: Arthrogryposis presents with lower limb contractures that resemble clubfoot and/or vertical talus. Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome). We asked whether the contractile genes responsible...

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Source

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Identifiers

PMID: 19142688
DOI: 10.1007/s11999-008-0694-5
PMCID: PMC2664426

Genes

TNNT3
MYH3
TPM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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