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Article

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Annals of neurology - 1 Apr 2003

Mercuri Eugenio, Brockington Martin, Straub Volker, Quijano-Roy Susana, Yuva Yeliz, Herrmann Ralf, Brown Susan C, Torelli Silvia, Dubowitz Victor, Blake Derek J, Romero Norma B, Estournet Brigitte, Sewry Caroline A, Guicheney Pascale, Voit Thomas, Muntoni Francesco

Abstract excerpt

We describe 22 patients with mutations in the fukutin-related protein (FKPR) gene. Four patients had congenital muscular dystrophy (MDC1C), with presentation at birth, severe weakness and inability to stand unsupported. The other 18 had limb girdle muscular dystrophy (LGMD2I). Eleven showed a Duc...

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Identifiers

PMID: 12666124
DOI: 10.1002/ana.10559

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12666124-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Phenotypic spectrum associated with mutations in the fukutin-related protein gene.PMID 12666124Read ↗

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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.Semantic proximity Read ↗

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