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Article

A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jul 2013

Riisager M, Duno M, Hansen F Juul, Krag T O, Vissing C R, Vissing J

Abstract excerpt

Defects in glycosylations of α-dystroglycan are associated with mutations in several genes, including the fukutin gene (FKTN). Hypoglycosylation of α-dystroglycan results in several forms of muscular dystrophy with variable phenotype. Outside Japan, the prevalence of muscular dystrophies related...

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Source

Identifiers

PMID: 23746544
DOI: 10.1016/j.nmd.2013.04.006

Genes

FKTN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23746544-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.PMID 23746544Read ↗

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