Progression and variation of fatty infiltration of the thigh muscles in Duchenne muscular dystrophy, a muscle magnetic resonance imaging study

2015 ◽  
Vol 25 (5) ◽  
pp. 375-380 ◽  
Author(s):  
Wenzhu Li ◽  
Yiming Zheng ◽  
Wei Zhang ◽  
Zhaoxia Wang ◽  
Jiangxi Xiao ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Fatty Infiltration ◽  
Imaging Study ◽  
Magnetic Resonance Imaging Study ◽  
Resonance Imaging ◽  
Thigh Muscles ◽  
Muscle Magnetic Resonance Imaging

Effect of deflazacort on cardiac and sternocleidomastoid muscles in Duchenne muscular dystrophy: A magnetic resonance imaging study

2009 ◽  
Vol 13 (1) ◽  
pp. 34-40 ◽  
Author(s):  
Sophie Mavrogeni ◽  
Antigoni Papavasiliou ◽  
Marouso Douskou ◽  
Genovefa Kolovou ◽  
Evangelia Papadopoulou ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Imaging Study ◽  
Magnetic Resonance Imaging Study ◽  
Resonance Imaging

scholarly journals Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Zhiying Xie ◽  
Jiangxi Xiao ◽  
Yiming Zheng ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Muscle Tissue ◽  
Founder Mutation ◽  
Fatty Infiltration ◽  
Limb Girdle Muscular Dystrophy ◽  
Resonance Imaging ◽  
Thigh Muscles ◽  
Vastus Intermedius

Limb girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy that is rare in Asia and is caused by mutations in the fukutin-related protein gene (FKRP). The aim of this study was to determine if there are any characteristic features of muscle on magnetic resonance imaging (MRI) in patients with LGMD2I harboring the founder mutation c.545A>G in FKRP. Using MRI, we delineated changes in the thigh muscles of ten patients with genetically confirmed LGMD2I. The majority of muscle biopsy specimens showed reduced glycosylation of α-dystroglycan, decreased expression of laminin α2, and a dystrophic pattern. In our cohort, the muscles with the most severe fatty infiltration were adductor magnus and vastus intermedius, whereas the rectus femoris, sartorius, and gracilis muscles were relatively spared. In seven patients, we identified a concentric fatty infiltration pattern that was most pronounced in the vastus intermedius and vastus medialis muscles around the distal femoral diaphysis. In this disease, the initial fatty infiltration of the posterior thigh muscles gradually progresses anteriorly regardless of the founder mutation in FKRP. Muscle tissue in patients with LGMD2I who have the founder mutation c.545A>G in FKRP shows a distinctive concentric pattern of fatty infiltration and edema on MRI.

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