merosin deficiency
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P.330Fibroadipose infiltration scores of specific muscles are influenced by disease duration in partial merosin deficiency

2019 ◽  
Vol 29 ◽  
pp. S163
Author(s):  
D. Gómez-Andrés ◽  
J. Haberlova ◽  
L. Costa Comellas ◽  
M. Kyncl ◽  
F. Munell ◽  
...  
Keyword(s):  
Disease Duration ◽  
Merosin Deficiency

scholarly journals A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient

2018 ◽  
Vol 57 (6) ◽  
pp. 877-882 ◽  
Author(s):  
Akatsuki Kubota ◽  
Hiroyuki Ishiura ◽  
Jun Mitsui ◽  
Kaori Sakuishi ◽  
Atsushi Iwata ◽  
...  
Keyword(s):  
Japanese Patient ◽  
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 Partial Merosin Deficiency and Precocious Puberty

2015 ◽  
Vol 12 (1) ◽  
Author(s):  
Beray Selver Eklioglu ◽  
Nesibe Akyurek ◽  
Sevil Ari Yuca ◽  
Mehmet Emre Atabek
Keyword(s):  
Precocious Puberty ◽  
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

P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency

2013 ◽  
Vol 23 (9-10) ◽  
pp. 746
Author(s):  
T. Stojkovic ◽  
I. Nelson ◽  
J. Nectoux ◽  
M. Cossee ◽  
V. Allamand ◽  
...  
Keyword(s):  
Clinical Heterogeneity ◽  
Merosin Deficiency

The AChE membrane-binding tail PRiMA is down-regulated in muscle and nerve of mice with muscular dystrophy by merosin deficiency

2013 ◽  
Vol 203 (1) ◽  
pp. 330-334 ◽  
Author(s):  
C.J. Vidal ◽  
M.F. Montenegro ◽  
E. Muñoz-Delgado ◽  
F.J. Campoy ◽  
J. Cabezas-Herrera ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Membrane Binding ◽  
Merosin Deficiency

Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: A chance association or a novel phenotype?

2011 ◽  
Vol 44 (5) ◽  
pp. 826-828 ◽  
Author(s):  
Nicola Carboni ◽  
Giovanni Marrosu ◽  
Maurizio Porcu ◽  
Anna Mateddu ◽  
Elisabetta Solla ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Chain Gene ◽  
Laminin Α2 ◽  
Merosin Deficiency

Clinical and pathological heterogeneity in late-onset partial merosin deficiency

2011 ◽  
Vol 44 (4) ◽  
pp. 590-593 ◽  
Author(s):  
Sanjeev Rajakulendran ◽  
Matt Parton ◽  
Janice L. Holton ◽  
Michael G. Hanna
Keyword(s):  
Late Onset ◽  
Merosin Deficiency
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