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Article

Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Nov 2021

Wright Alec, Hall Arielle, Daly Tara, Fontelonga Tatiana, Potter Sarah, Schafer Caitlin, Lindsley Andrew, Hung Christina, Bodamer Olaf, Gussoni Emanuela

Abstract excerpt

Kabuki syndrome (KS) is a rare genetic disorder caused primarily by mutations in the histone modifier genes KMT2D and KDM6A. The genes have broad temporal and spatial expression in many organs, resulting in complex phenotypes observed in KS patients. Hypotonia is one of the clinical presentations associated with KS, yet detailed examination of skeletal muscle samples from KS patients has not been reported. We...

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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: 34613626
DOI: 10.1096/fj.202100823R
PMCID: PMC8500524

Genes

KMT2D
KDM6A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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