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Article

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.

Human molecular genetics - 15 Dec 2013

Ha Kyungsoo, Buchan Jillian G, Alvarado David M, McCall Kevin, Vydyanath Anupama, Luther Pradeep K, Goldsmith Matthew I, Dobbs Matthew B, Gurnett Christina A

Abstract excerpt

Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is expressed predominantly in slow-twitch muscle fibers. Human MYBPC1 mutations are associated with distal arthrogryposis type 1 and lethal congenital contracture syndrome type 4. As MYBPC1 function is incompletely und...

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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: 23873045
DOI: 10.1093/hmg/ddt344
PMCID: PMC3836476

Genes

MYBPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23873045-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.PMID 23873045Read ↗

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Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisSemantic proximity Read ↗

MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.Semantic proximity Read ↗

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