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Article

Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

Neuromuscular disorders : NMD - 1 Feb 2006

Vajsar Jiri, Zhang Wenli, Dobyns William B, Biggar Doug, Holden Kenton R, Hawkins Cynthia, Ray Peter, Olney Ann H, Burson Catherine M, Srivastava Anand K, Schachter Harry

Abstract excerpt

We report a new fibroblast and lymphoblast based protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 enzymatic assay, which allows rapid and accurate diagnosis of carriers and patients with muscle-eye-brain type of congenital muscular dystrophy. Seven patients with genetically confirmed muscle-eye-brain disease were assayed for protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 enzyme...

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Identifiers

PMID: 16427280
DOI: 10.1016/j.nmd.2005.11.012

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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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