Congenital muscular dystrophy with laminin α2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry

1996 ◽  
Vol 155 (11) ◽  
pp. 968-976 ◽  
Author(s):  
R. Herrmann ◽  
V. Straub ◽  
K. Meyer ◽  
T. Kahn ◽  
M. Wagner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Clinical Findings ◽  
Intermediate Phenotype ◽  
Laminin Α2

scholarly journals Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy

2017 ◽  
Vol 4 (2) ◽  
pp. 115-126 ◽  
Author(s):  
Raffaella Willmann ◽  
Heather Gordish-Dressman ◽  
Sarina Meinen ◽  
Markus A. Rüegg ◽  
Qing Yu ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mouse Model ◽  
Congenital Muscular Dystrophy ◽  
Laminin Α2

S.P.21 Clinical outcome measures in Collagen 6 (COL6) and Laminin α2(LAMA2) related congenital muscular dystrophy

2012 ◽  
Vol 22 (9-10) ◽  
pp. 893
Author(s):  
K.G. Meilleur ◽  
M. Jain ◽  
E. Kim ◽  
L. Hynan ◽  
C.Y. Shieh ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Clinical Outcome ◽  
Outcome Measures ◽  
Congenital Muscular Dystrophy ◽  
Laminin Α2

P.8.6 Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients

2013 ◽  
Vol 23 (9-10) ◽  
pp. 781
Author(s):  
H. Xiong ◽  
D.D. Tan ◽  
S. Wang ◽  
X.Z. Chang ◽  
Y. Yuan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Phenotype Analysis ◽  
Laminin Α2

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

2005 ◽  
Vol 15 (9-10) ◽  
pp. 588-594 ◽  
Author(s):  
Mariz Vainzof ◽  
Pascale Richard ◽  
Ralf Herrmann ◽  
Cecilia Jimenez-Mallebrera ◽  
Beril Talim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Collective Experience ◽  
Laminin Α2

Unusual Laminin α2 Processing in Myoblasts from a Patient with a Novel Variant of Congenital Muscular Dystrophy

2000 ◽  
Vol 277 (3) ◽  
pp. 639-642 ◽  
Author(s):  
Giovanna Lattanzi ◽  
Francesco Muntoni ◽  
Patrizia Sabatelli ◽  
Stefano Squarzoni ◽  
Nadir Mario Maraldi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Novel Variant ◽  
Laminin Α2

scholarly journals Laminin α2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy

FEBS Letters ◽  
1997 ◽  
Vol 415 (1) ◽  
pp. 33-39 ◽  
Author(s):  
Yuko Miyagoe ◽  
Kazunori Hanaoka ◽  
Ikuya Nonaka ◽  
Michiko Hayasaka ◽  
Yoko Nabeshima ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mutant Mice ◽  
Null Mutant ◽  
Targeted Disruption ◽  
New Model ◽  
Null Mutant Mice ◽  
Laminin Α2

scholarly journals Pathology is alleviated by doxycycline in a laminin-α2-null model of congenital muscular dystrophy

2008 ◽  
Vol 65 (1) ◽  
pp. 47-56 ◽  
Author(s):  
Mahasweta Girgenrath ◽  
Mary Lou Beermann ◽  
Vivek K. Vishnudas ◽  
Sachiko Homma ◽  
Jeffrey Boone Miller
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Null Model ◽  
Laminin Α2

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

2008 ◽  
Vol 18 (2) ◽  
pp. 137-145 ◽  
Author(s):  
Olfa Siala ◽  
Nacim Louhichi ◽  
Chahnez Triki ◽  
Madeleine Morinière ◽  
Faiza Fakhfakh ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mrna Processing ◽  
Laminin Α2

Laminin α2 deficient congenital muscular dystrophy: prenatal diagnosis

1999 ◽  
Vol 55 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Dvora Nass ◽  
Iris Goldberg ◽  
Menachem Sadeh
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Laminin Α2
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