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MRI in sarcoglycanopathies: a large international cohort study
G. Tasca, M. Monforte, J. Díaz-Manera, G. Brisca, C. Semplicini, A. D'Amico, F. Fattori, A. Pichiecchio, A. Berardinelli, L. Maggi, E. Maccagnano, N. Løkken, C. Marini-Bettolo, F. Munell, A. Sanchez, N. Alshaikh, NC. Voermans, J. Dastgir, D....
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články
NLK
ProQuest Central
od 1944-07-01 do Před 6 měsíci
Nursing & Allied Health Database (ProQuest)
od 1944-07-01 do Před 6 měsíci
Health & Medicine (ProQuest)
od 1944-07-01 do Před 6 měsíci
Psychology Database (ProQuest)
od 1944-07-01 do Před 6 měsíci
PubMed
28889091
DOI
10.1136/jnnp-2017-316736
Knihovny.cz E-zdroje
- MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- kosterní svaly patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody MeSH
- mladiství MeSH
- mutace MeSH
- předškolní dítě MeSH
- sarkoglykanopatie genetika MeSH
- sarkoglykany nedostatek genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
- Spojené státy americké MeSH
OBJECTIVES: To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. METHODS: Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well. RESULTS: Scans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones. CONCLUSIONS: Muscle involvement on MRI is consistent in patients with LGMD2C-F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.
Assistance Publique des Hôpitaux de Paris Centre de Référence Neuromusculaire GNMH FILNEMUS France
Child Neurology and Psychiatry Unit National Neurological Institute C Mondino Pavia Italy
Copenhagen Neuromuscular Center Rigshospitalet University of Copenhagen Copenhagen Denmark
Department of Neuroradiology National Neurological Institute C Mondino Pavia Italy
Department of Neuroscience University of Padova Padova Italy
Department of Pediatric Neurology Hospital Universitari Vall d'Hebron Barcelona Spain
Department of Radiology Hospital Universitari Vall d'Hebron Barcelona Spain
Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health London UK
National Institute of Neurological Disorders and Stroke NIH Bethesda Maryland USA
Neuropsichiatria Infantile Università Cattolica del Sacro Cuore Rome Italy
Citace poskytuje Crossref.org
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