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Article

Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.

Molecular genetics and metabolism - 1 Jan 2000

Gottlieb Emily, Ciccone Carla, Darvish Daniel, Naiem-Cohen Shahrouz, Dalakas Marinos C, Savelkoul Paul J, Krasnewich Donna M, Gahl William A, Huizing Marjan

Abstract excerpt

Aberrant glycosylation of dystroglycan occurs in certain muscular dystrophies, including hereditary inclusion body myopathy (HIBM). HIBM harbors a widely varying clinical severity and age of onset, which raised the suspicion of the presence of disease modifier genes. We considered the highly polymorphic dystroglycan gene (DAG1) as a feasible candidate modifier gene. DAG1 genomic DNA was sequenced for 32 HIBM...

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Source

Identifiers

PMID: 16112887
DOI: 10.1016/j.ymgme.2005.07.003

Genes

DAG1

Provenance

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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