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Article

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

Clinical biochemistry - 1 Jul 2003

Zhang Wenli, Vajsar Jiri, Cao Pinjiang, Breningstall Galen, Diesen Charlotta, Dobyns William, Herrmann Ralph, Lehesjoki Anna-Elina, Steinbrecher Alice, Talim Beril, Toda Tatsushi, Topaloglu Haluk, Voit Thomas, Schachter Harry

Abstract excerpt

OBJECTIVES: Mutations disrupting the interaction of extra-cellular ligands and alpha-dystroglycan are responsible for an etiologically heterogeneous group of autosomal recessive congenital muscular dystrophies (CMD) that can have associated brain and eye abnormalities. The objective is to develop...

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Identifiers

PMID: 12849864
DOI: 10.1016/s0009-9120(03)00036-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12849864-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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