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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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2016-01, Vol.26 (1), p.33-40
Main Authors: 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: Article
Language:English
Subjects:
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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Description
Summary: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