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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 to aberrations of FKTN is rare, with only eight reported cases of limb girdle phenotype (LGMD2M). We describe the...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 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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