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Article

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

Archives of neurology - 1 Feb 2006

Mercuri Eugenio, Topaloglu Haluk, Brockington Martin, Berardinelli Angela, Pichiecchio Anna, Santorelli Filippo, Rutherford Mary, Talim Beril, Ricci Enzo, Voit Thomas, Muntoni Francesco

Abstract excerpt

OBJECTIVES: To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible genotype-phenotype correlations. DESIGN: We retrospectively reviewed brain magnetic resonance imaging in patients with congenital muscular dystrophy and FKRP gene mutations. PATIENTS: Thirteen patients with congenital muscular dystrophy...

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Source

Identifiers

PMID: 16476814
DOI: 10.1001/archneur.63.2.251

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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