Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

1998 ◽  
Vol 40 (12) ◽  
pp. 807-811 ◽  
Author(s):  
L. Farina ◽  
L. Morandi ◽  
I. Milanesi ◽  
E. Ciceri ◽  
M. Mora ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mri Findings ◽  
Merosin Deficiency

scholarly journals Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42

2000 ◽  
Vol 66 (2) ◽  
pp. 428-435 ◽  
Author(s):  
Martin Brockington ◽  
Caroline A. Sewry ◽  
Ralf Herrmann ◽  
Isam Naom ◽  
Andrew Dearlove ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Merosin Deficiency

scholarly journals New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies

2020 ◽  
Vol 41 (6) ◽  
pp. 1094-1098
Author(s):  
A. Hirasawa-Inoue ◽  
N. Sato ◽  
Y. Shigemoto ◽  
Y. Kimura ◽  
A. Ishiyama ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Brain Stem ◽  
Congenital Muscular Dystrophy ◽  
Venous System ◽  
Mri Findings

Dia­gnostic Pitfalls of an Atypical Form 
of Congenital Muscular Dystrophy –  Partial Merosin Deficiency –  Case Reports

2017 ◽  
Vol 80/113 (1) ◽  
pp. 101-106
Author(s):  
Alžběta Slabá ◽  
Lenka Fajkusová ◽  
Kristýna Stehlíková ◽  
Rita Barresi ◽  
Martin Kynčl ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Case Reports ◽  
Congenital Muscular Dystrophy ◽  
Atypical Form ◽  
Merosin Deficiency

CNS findings in congenital muscular dystrophy 1A (with laminin alpha-2-deficiency)

2011 ◽  
Vol 2 (2) ◽  
Author(s):  
Cornelia Köhler ◽  
Katharina Weigt-Usinger ◽  
Christoph Heyer ◽  
Charlotte Thiels ◽  
Gabriele Dekomien ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Grey Matter ◽  
Pediatric Patients ◽  
Congenital Muscular Dystrophy ◽  
White Matter Lesions ◽  
Muscular Hypotonia ◽  
Mri Findings ◽  
Mri Scan ◽  
Progressive Muscle Weakness ◽  
The Brain

AbstractCongenital muscular dystrophy (MDC) is a group of rare hereditary myopathies with an early onset of progressive muscle weakness and dystrophic changes as evidenced by muscle biopsy. Some forms are associated with severe malformations of the brain. This study presented 2 pediatric patients with genetically diagnosed congenital muscular dystrophy 1A. The patients exhibited a typical combination of muscular hypotonia, joint contractures and elevated creatine kinase levels. Characteristic white matter lesions were not present in an early MRI scan of one patient, but could be detected at the age of 18 months. The second patient showed both severe white and grey matter abnormalities (pachy microgyria) in the MRI scan. In both cases, MRI findings did not correlate with the mental development of the patients.

scholarly journals Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report

2017 ◽  
Vol 7 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Yingyin Liang ◽  
Guidian Li ◽  
Songlin Chen ◽  
Rongxing He ◽  
Xiangxue  Zhou ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mri Findings ◽  
Muscle Mri ◽  
One Year

Congenital Muscular Dystrophy with Secondary Merosin Deficiency and Normal Brain MRI: A Novel Entity?

2000 ◽  
Vol 31 (4) ◽  
pp. 186-189 ◽  
Author(s):  
E. Mercuri ◽  
Caroline A. Sewry ◽  
Susan C. Brown ◽  
M. Brockington ◽  
H. Jungbluth ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Brain Mri ◽  
Congenital Muscular Dystrophy ◽  
Normal Brain ◽  
Merosin Deficiency

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.

Radiology ◽  
1998 ◽  
Vol 206 (3) ◽  
pp. 811-816 ◽  
Author(s):  
S Lamer ◽  
R Y Carlier ◽  
J M Pinard ◽  
D Mompoint ◽  
C Bagard ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mr Imaging ◽  
Congenital Muscular Dystrophy ◽  
Imaging Findings ◽  
Merosin Deficiency

POMKmutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

2014 ◽  
Vol 51 (4) ◽  
pp. 275-282 ◽  
Author(s):  
Anja von Renesse ◽  
Mina V Petkova ◽  
Susanne Lützkendorf ◽  
Jan Heinemeyer ◽  
Esther Gill ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Merosin Deficiency

MRI findings in Fukuyama congenital muscular dystrophy: a rare case report

2012 ◽  
Vol 112 (4) ◽  
pp. 401-403
Author(s):  
Ravi Kanth Jakkani ◽  
Jyoti Sureka ◽  
S. Shyam ◽  
Sunithi Mani
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Rare Case ◽  
Congenital Muscular Dystrophy ◽  
Mri Findings ◽  
Rare Case Report
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