Congenital Muscular Dystrophy with Partial Merosin Deficiency and Late Onset Epilepsy

1998 ◽  
Vol 40 (1) ◽  
pp. 37-45 ◽  
Author(s):  
F. Martinello ◽  
C. Angelini ◽  
C.P. Trevisan
Keyword(s):  
Muscular Dystrophy ◽  
Late Onset ◽  
Congenital Muscular Dystrophy ◽  
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

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

scholarly journals Linker molecules between laminins and dystroglycan ameliorate laminin-α2–deficient muscular dystrophy at all disease stages

2007 ◽  
Vol 176 (7) ◽  
pp. 979-993 ◽  
Author(s):  
Sarina Meinen ◽  
Patrizia Barzaghi ◽  
Shuo Lin ◽  
Hanns Lochmüller ◽  
Markus A. Ruegg
Keyword(s):  
Muscular Dystrophy ◽  
Basement Membrane ◽  
Late Onset ◽  
Treatment Options ◽  
Congenital Muscular Dystrophy ◽  
Chimeric Protein ◽  
Early Expression ◽  
Disease Stages ◽  
Linker Molecules ◽  
Laminin Α2

Mutations in laminin-α2 cause a severe congenital muscular dystrophy, called MDC1A. The two main receptors that interact with laminin-α2 are dystroglycan and α7β1 integrin. We have previously shown in mouse models for MDC1A that muscle-specific overexpression of a miniaturized form of agrin (mini-agrin), which binds to dystroglycan but not to α7β1 integrin, substantially ameliorates the disease (Moll, J., P. Barzaghi, S. Lin, G. Bezakova, H. Lochmuller, E. Engvall, U. Muller, and M.A. Ruegg. 2001. Nature. 413:302–307; Bentzinger, C.F., P. Barzaghi, S. Lin, and M.A. Ruegg. 2005. Matrix Biol. 24:326–332.). Now we show that late-onset expression of mini-agrin still prolongs life span and improves overall health, although not to the same extent as early expression. Furthermore, a chimeric protein containing the dystroglycan-binding domain of perlecan has the same activities as mini-agrin in ameliorating the disease. Finally, expression of full-length agrin also slows down the disease. These experiments are conceptual proof that linking the basement membrane to dystroglycan by specifically designed molecules or by endogenous ligands, could be a means to counteract MDC1A at a progressed stage of the disease, and thus opens new possibilities for the development of treatment options for this muscular dystrophy.

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

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

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency

1997 ◽  
Vol 7 (2) ◽  
pp. 85-89 ◽  
Author(s):  
Ersin Tan ◽  
Haluk Topaloglu ◽  
Caroline Sewry ◽  
Yasar Zorlu ◽  
Isam Naom ◽  
...  
Keyword(s):  
White Matter ◽  
Muscular Dystrophy ◽  
Late Onset ◽  
Cerebral White Matter ◽  
White Matter Changes ◽  
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

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

Neurology ◽  
1996 ◽  
Vol 46 (5) ◽  
pp. 1354-1354 ◽  
Author(s):  
C. Minetti ◽  
M. Bado ◽  
G. Morreale ◽  
M. Pedemont ◽  
G. Cordone
Keyword(s):  
Muscular Dystrophy ◽  
Basal Lamina ◽  
Congenital Muscular Dystrophy ◽  
Merosin Deficiency
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