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Article

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Neuromuscular disorders : NMD - 1 Jan 2008

Manya Hiroshi, Bouchet Céline, Yanagisawa Akiko, Vuillaumier-Barrot Sandrine, Quijano-Roy Susana, Suzuki Yasushi, Maugenre Svetlana, Richard Pascale, Inazu Toshiyuki, Merlini Luciano, Romero Norma B, Leturcq France, Bezier Isabelle, Topaloglu Haluk, Estournet Brigitte, Seta Nathalie, Endo Tamao, Guicheney Pascale

Abstract excerpt

Defects in O-mannosylation of alpha-dystroglycan cause some forms of congenital muscular dystrophy (CMD), the so-called alpha-dystroglycanopathies. Six genes are responsible for these diseases with overlapping phenotypes. We investigated the usefulness of a biochemical approach for the diagnosis and investigation of the alpha-dystroglycanopathies using immortalized lymphoblasts prepared from genetically diagnosed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17869517
DOI: 10.1016/j.nmd.2007.08.002

Genes

POMGNT1
POMT1
POMT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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