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Article

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Human molecular genetics - 1 Nov 2014

Di Costanzo Stefania, Balasubramanian Anuradha, Pond Heather L, Rozkalne Anete, Pantaleoni Chiara, Saredi Simona, Gupta Vandana A, Sunu Christine M, Yu Timothy W, Kang Peter B, Salih Mustafa A, Mora Marina, Gussoni Emanuela, Walsh Christopher A, Manzini M Chiara

Abstract excerpt

Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dystrophies showing extreme genetic and clinical heterogeneity. Specific glycans bound to the extracellular portion of dystroglycan, α-dystroglycan, mediate ECM...

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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: 24925318
DOI: 10.1093/hmg/ddu296
PMCID: PMC4189906

Genes

POMK

Provenance

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Related research

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POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.PMID 24925318Read ↗

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Removal of <i>pomt1</i> in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypesSemantic proximity Read ↗

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