Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Highlights • Muscle MRI in Emery–Dreifuss patients is identical regardless of the genotype. • LMNA mutated patients have the same MRI pattern of muscle atrophy. • Heatmaps are useful to identify patterns on MRI of patients with muscle dystrophy.

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Bibliographische Detailangaben
Veröffentlicht in:	Neuromuscular disorders : NMD 2016-01, Vol.26 (1), p.33-40
Hauptverfasser:	Díaz-Manera, Jordi, Alejaldre, Aida, González, Laura, Olivé, Montse, Gómez-Andrés, David, Muelas, Nuria, Vílchez, Juan José, Llauger, Jaume, Carbonell, Pilar, Márquez-Infante, Celedonio, Fernández-Torrón, Roberto, Poza, Juan José, López de Munáin, Adolfo, González-Quereda, Lidia, Mirabet, Sonia, Clarimon, Jordi, Gallano, Pía, Rojas-García, Ricard, Gallardo, Eduard, Illa, Isabel
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Cardiomyopathies - genetics Cardiomyopathies - pathology EMD Emery–Dreifuss Female Humans Lamin Type A - genetics LMNA Magnetic Resonance Imaging Male Middle Aged Muscle CT Muscle dystrophy Muscle MRI Muscle, Skeletal - diagnostic imaging Muscle, Skeletal - pathology Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Muscular Dystrophy, Emery-Dreifuss - genetics Muscular Dystrophy, Emery-Dreifuss - pathology Mutation - genetics Neurology Radiography Tomography Scanners, X-Ray Computed Young Adult
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Beschreibung
Zusammenfassung:	Highlights • Muscle MRI in Emery–Dreifuss patients is identical regardless of the genotype. • LMNA mutated patients have the same MRI pattern of muscle atrophy. • Heatmaps are useful to identify patterns on MRI of patients with muscle dystrophy.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2015.10.001