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Article

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.

Neuromuscular disorders : NMD - 1 May 2005

Müller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S

Abstract excerpt

Limb-girdle muscular dystrophy LGMD2I is caused by mutations in the fukutin-related protein (FKRP) gene. Clinically, LGMD2I exhibits a great phenotypic variability ranging from severe, rapidly progressive weakness and wasting of the limb-girdle muscles to mild disorders. Here, we present three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy. Elevated serum creatine kinase...

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Source

Identifiers

PMID: 15833432
DOI: 10.1016/j.nmd.2005.02.004

Genes

FKRP

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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