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Article

Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs.

Experimental & molecular medicine - 1 Mar 2023

Song Taejeong, Landim-Vieira Maicon, Ozdemir Mustafa, Gott Caroline, Kanisicak Onur, Pinto Jose Renato, Sadayappan Sakthivel

Abstract excerpt

Skeletal muscle, a highly complex muscle type in the eukaryotic system, is characterized by different muscle subtypes and functions associated with specific myosin isoforms. As a result, skeletal muscle is the target of numerous diseases, including distal arthrogryposes (DAs). Clinically, DAs are a distinct disorder characterized by variation in the presence of contractures in two or more distal limb joints...

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Topics

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Share to Cardiomyopathy and Myosin Studies
Share to MYBPC3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Physiology and Disorders

Share to Muscle, Skeletal

Share to Muscular Diseases

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Share to Myocardium

Share to Myosins

Source

Open in PubMed Open full text

Identifiers

PMID: 36854776
DOI: 10.1038/s12276-023-00953-x
PMCID: PMC10073172

Genes

MYBPC1
MYBPC2
MYBPC3

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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