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Article

Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Aug 2013

Ackermann Maegen A, Patel Puja D, Valenti Jane, Takagi Yasuharu, Homsher Earl, Sellers James R, Kontrogianni-Konstantopoulos Aikaterini

Abstract excerpt

Myosin binding protein C (MyBP-C) is expressed in striated muscles, where it plays key roles in the modulation of actomyosin cross-bridges. Slow MyBP-C (sMyBP-C) consists of multiple variants sharing common domains but also containing unique segments within the NH2 and COOH termini. Two missense mutations in the NH2 terminus (W236R) and COOH terminus (Y856H) of sMyBP-C have been causally linked to the development...

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Identifiers

PMID: 23657818
DOI: 10.1096/fj.13-228882
PMCID: PMC3714579

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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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