Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging

2018 ◽  
Vol 58 (4) ◽  
pp. 536-541 ◽  
Author(s):  
Xuelin Feng ◽  
Sushan Luo ◽  
Jing Li ◽  
Dongyue Yue ◽  
Jianying Xi ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Fatty Infiltration ◽  
Limb Girdle Muscular Dystrophy ◽  
Lower Limbs ◽  
Resonance Imaging ◽  
Muscle Magnetic Resonance Imaging ◽  
Selective Pattern

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.

Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy

2004 ◽  
Vol 110 (2) ◽  
pp. 87-93 ◽  
Author(s):  
I. Mahjneh ◽  
A. E. Lamminen ◽  
B. Udd ◽  
A. E. Paetau ◽  
P. Hackman ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Resonance Imaging ◽  
Muscle Magnetic Resonance Imaging

scholarly journals Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessments

2021 ◽  
Author(s):  
Giacomo P. Comi ◽  
Erik H. Niks ◽  
Claudia M. Cinnante ◽  
Hermien E. Kan ◽  
Krista Vandenborne ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Resonance Imaging

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

2003 ◽  
Vol 13 (7-8) ◽  
pp. 554-558 ◽  
Author(s):  
E Mercuri ◽  
C Cini ◽  
A Pichiecchio ◽  
J Allsop ◽  
S Counsell ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Resonance Imaging ◽  
Muscle Magnetic Resonance Imaging

Muscle Magnetic Resonance Imaging of the Lower Limbs: Valuable Diagnostic Tool in the Investigation of Childhood Neuromuscular Disorders

2014 ◽  
Vol 45 (05) ◽  
pp. 278-288 ◽  
Author(s):  
Veronika Kana ◽  
Christian Kellenberger ◽  
Elisabeth Rushing ◽  
Andrea Klein
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Diagnostic Tool ◽  
Neuromuscular Disorders ◽  
Lower Limbs ◽  
Resonance Imaging ◽  
Valuable Diagnostic Tool ◽  
Muscle Magnetic Resonance Imaging

Spin-Lock Magnetic Resonance Imaging of Muscle in Patients With Autosomal Recessive Limb Girdle Muscular Dystrophy

2000 ◽  
Vol 10 (2) ◽  
pp. 73-77 ◽  
Author(s):  
Malgorzata B Franczak ◽  
John L Ulmer ◽  
Safwan Jaradeh ◽  
James D McDaniel ◽  
Leighton P Mark ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Limb Girdle Muscular Dystrophy ◽  
Resonance Imaging ◽  
Spin Lock
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