Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study.
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-re...
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Public Library of Science (PLoS)
2014-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0090377&type=printable |
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| author | Tracey A Willis Kieren G Hollingsworth Anna Coombs Marie-Louise Sveen Soren Andersen Tanya Stojkovic Michelle Eagle Anna Mayhew Paulo Loureiro de Sousa Liz Dewar Jasper M Morrow Christopher D J Sinclair John S Thornton Kate Bushby Hanns Lochmuller Michael G Hanna Jean-Yves Hogrel Pierre G Carlier John Vissing Volker Straub |
| author_facet | Tracey A Willis Kieren G Hollingsworth Anna Coombs Marie-Louise Sveen Soren Andersen Tanya Stojkovic Michelle Eagle Anna Mayhew Paulo Loureiro de Sousa Liz Dewar Jasper M Morrow Christopher D J Sinclair John S Thornton Kate Bushby Hanns Lochmuller Michael G Hanna Jean-Yves Hogrel Pierre G Carlier John Vissing Volker Straub |
| author_sort | Tracey A Willis |
| collection | DOAJ |
| description | 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 grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p<0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I. |
| format | Article |
| id | doaj-art-809289b1bcdc4a229f182469ffcb1256 |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-809289b1bcdc4a229f182469ffcb12562025-08-20T02:22:39ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0192e9037710.1371/journal.pone.0090377Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study.Tracey A WillisKieren G HollingsworthAnna CoombsMarie-Louise SveenSoren AndersenTanya StojkovicMichelle EagleAnna MayhewPaulo Loureiro de SousaLiz DewarJasper M MorrowChristopher D J SinclairJohn S ThorntonKate BushbyHanns LochmullerMichael G HannaJean-Yves HogrelPierre G CarlierJohn VissingVolker StraubWe 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 grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p<0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0090377&type=printable |
| spellingShingle | Tracey A Willis Kieren G Hollingsworth Anna Coombs Marie-Louise Sveen Soren Andersen Tanya Stojkovic Michelle Eagle Anna Mayhew Paulo Loureiro de Sousa Liz Dewar Jasper M Morrow Christopher D J Sinclair John S Thornton Kate Bushby Hanns Lochmuller Michael G Hanna Jean-Yves Hogrel Pierre G Carlier John Vissing Volker Straub Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. PLoS ONE |
| title | Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. |
| title_full | Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. |
| title_fullStr | Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. |
| title_full_unstemmed | Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. |
| title_short | Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. |
| title_sort | quantitative magnetic resonance imaging in limb girdle muscular dystrophy 2i a multinational cross sectional study |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0090377&type=printable |
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