Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

2012 ◽  
Vol 22 ◽  
pp. S137-S147 ◽  
Author(s):  
Mohamed Jarraya ◽  
Susana Quijano-Roy ◽  
Nicole Monnier ◽  
Anthony Béhin ◽  
Daniela Avila-Smirnov ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Congenital Myopathy ◽  
Whole Body ◽  
Muscle Mri ◽  
Body Muscle

Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

2012 ◽  
Vol 22 ◽  
pp. S68-S84 ◽  
Author(s):  
Susana Quijano-Roy ◽  
Daniela Avila-Smirnow ◽  
Robert Y. Carlier
Keyword(s):  
Pattern Recognition ◽  
Early Onset ◽  
Whole Body ◽  
Muscle Mri ◽  
Body Muscle ◽  
Mri Protocol

Whole-Body Muscle MRI Characteristics of LAMA2-related Congenital Muscular Dystrophy Children: An Emerging Pattern

2021 ◽  
Author(s):  
Hossam M. Sakr ◽  
Nagia Fahmy ◽  
Nermine S. Elsayed ◽  
Hala Abdulhady ◽  
Tamer A. El-Sobky ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Whole Body ◽  
Muscle Mri ◽  
Body Muscle ◽  
Mri Characteristics ◽  
Emerging Pattern

scholarly journals Whole-Body Muscle MRI Characteristics of LAMA2 Gene Mutation Congenital Muscular Dystrophy Children

2021 ◽  
Author(s):  
Hossam M. Sakr ◽  
Nagia Fahmy ◽  
Nermine S. Elsayed ◽  
Hala Abdulhady ◽  
Tamer A. El-Sobky ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Fatty Infiltration ◽  
Congenital Muscular Dystrophy ◽  
Whole Body ◽  
Control Group ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Muscle Diseases ◽  
Body Muscle ◽  
Index Group

Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. Our purpose is to analyze the pattern of muscle involvement in merosin-deficient CMD children employing whole-body muscle MRI. Ten children with merosin-deficient CMD underwent whole-body muscle MRI. We used a control group of other hereditary muscle diseases, which included 13 children. Overall, 37 muscles were graded for fatty infiltration using Mercuri scale modified by Fischer et al 2008. The results showed a fairly consistent pattern of muscle fatty infiltration in index group, which differed from that in control group. There was a highly statistically significant difference between the two groups in regard to the fatty infiltration of the neck, serratus anterior, rotator cuff, deltoid, forearm, gluteus maximus, gluteus medius, gastrocnemius and soleus muscles. Additionally, results showed relative sparing of the brachialis, biceps brachii, gracilis, sartorius, semitendinosus and extensor muscles of the ankle in index group. There is evidence to suggest that whole-body muscle MRI can become a useful contributor to the differential diagnosis of merosin deficient CMD.

Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis

2016 ◽  
Vol 26 ◽  
pp. S109
Author(s):  
E. Cavassa ◽  
M. Tordjman ◽  
A. Ferreiro ◽  
I. Dabaj ◽  
E. Malfatti ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Pompe Disease ◽  
Whole Body ◽  
Muscle Mri ◽  
Body Muscle ◽  
Rigid Spine Syndrome

M.P.5.05 Whole-body muscle MRI in collagen type VI-related myopathies (Ullrich CMD and Bethlem myopathy)

2009 ◽  
Vol 19 (8-9) ◽  
pp. 628
Author(s):  
S. Quijano-Roy ◽  
D. Avila-Smirnow ◽  
M. Zayani ◽  
S. Chaabane ◽  
M. Hamida ◽  
...  
Keyword(s):  
Collagen Type ◽  
Whole Body ◽  
Muscle Mri ◽  
Bethlem Myopathy ◽  
Body Muscle ◽  
Collagen Type Vi

Whole-Body muscle MRI in McArdle disease

2021 ◽  
Author(s):  
Tobaly David ◽  
Laforêt Pascal ◽  
Stojkovic Tanya ◽  
Behin Anthony ◽  
Petit Francois Michael ◽  
...  
Keyword(s):  
Whole Body ◽  
Muscle Mri ◽  
Mcardle Disease ◽  
Body Muscle

scholarly journals Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination

2020 ◽  
Vol 267 (8) ◽  
pp. 2408-2420 ◽  
Author(s):  
Alexander Mensch ◽  
Torsten Kraya ◽  
Felicitas Koester ◽  
Tobias Müller ◽  
Dietrich Stoevesandt ◽  
...  
Keyword(s):  
Distinct Pattern ◽  
Whole Body ◽  
Distal Myopathy ◽  
Muscle Mri ◽  
Body Muscle

Whole body muscle MRI correlates with muscle function in patients with adult onset Pompe disease

2015 ◽  
Vol 25 ◽  
pp. S188
Author(s):  
J. Díaz-Manera ◽  
S. Segovia ◽  
J. Llauger ◽  
I. Belmonte ◽  
G. Suárez-Cuartin ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Muscle Function ◽  
Whole Body ◽  
Adult Onset ◽  
Muscle Mri ◽  
Body Muscle

D.P.17 Whole body muscle MRI in three patients suffering from XMEA: A peculiar involvement pattern

2012 ◽  
Vol 22 (9-10) ◽  
pp. 823
Author(s):  
A. Magot ◽  
F. Caillon ◽  
J.M. Mussinia ◽  
A. David ◽  
Y. Pereon
Keyword(s):  
Whole Body ◽  
Muscle Mri ◽  
Body Muscle
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