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Article

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.

Human molecular genetics - 15 Jun 2015

Racca Alice W, Beck Anita E, McMillin Margaret J, Korte F Steven, Bamshad Michael J, Regnier Michael

Abstract excerpt

Distal arthrogryposis is the most common known heritable cause of congenital contractures (e.g. clubfoot) and results from mutations in genes that encode proteins of the contractile complex of skeletal muscle cells. Mutations are most frequently found in MYH3 and are predicted to impair the function of embryonic myosin. We measured the contractile properties of individual skeletal muscle cells and the activation...

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Identifiers

PMID: 25740846
DOI: 10.1093/hmg/ddv084
PMCID: PMC4481580

Genes

MYH3

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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The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.PMID 25740846Read ↗

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