MRI in sarcoglycanopathies: a large international cohort study.

doi:10.1136/jnnp-2017-316736

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Article

MRI in sarcoglycanopathies: a large international cohort study.

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2018

Tasca Giorgio, Monforte Mauro, Díaz-Manera Jordi, Brisca Giacomo, Semplicini Claudio, D'Amico Adele, Fattori Fabiana, Pichiecchio Anna, Berardinelli Angela, Maggi Lorenzo, Maccagnano Elio, Løkken Nicoline, Marini-Bettolo Chiara, Munell Francina, Sanchez Angel, Alshaikh Nahla, Voermans Nicol C, Dastgir Jahannaz, Vlodavets Dmitry, Haberlová Jana, Magnano Gianmichele, Walter Maggie C, Quijano-Roy Susana, Carlier Robert-Yves, van Engelen Baziel G M, Vissing John, Straub Volker, Bönnemann Carsten G, Mercuri Eugenio, Muntoni Francesco, Pegoraro Elena, Bertini Enrico, Udd Bjarne, Ricci Enzo, Bruno Claudio

Abstract excerpt

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...

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PMID: 28889091
DOI: 10.1136/jnnp-2017-316736

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