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Article

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study.

PloS one - 1 Jan 2014

Willis Tracey A, Hollingsworth Kieren G, Coombs Anna, Sveen Marie-Louise, Andersen Soren, Stojkovic Tanya, Eagle Michelle, Mayhew Anna, de Sousa Paulo Loureiro, Dewar Liz, Morrow Jasper M, Sinclair Christopher D J, Thornton John S, Bushby Kate, Lochmuller Hanns, Hanna Michael G, Hogrel Jean-Yves, Carlier Pierre G, Vissing John, Straub Volker

Abstract excerpt

We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1-weighted (T1w) imaging was assessed by qualitative...

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Identifiers

PMID: 24587344
DOI: 10.1371/journal.pone.0090377
PMCID: PMC3938727

Genes

FKRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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