scholarly journals The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype

2011 ◽  
Vol 20 (20) ◽  
pp. 3925-3932 ◽  
Author(s):  
E. Kudryashova ◽  
A. Struyk ◽  
E. Mokhonova ◽  
S. C. Cannon ◽  
M. J. Spencer
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Null Phenotype ◽  
The Common

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M von der Hagen ◽  
P Mitzscherling ◽  
K Köhler ◽  
A Kaindl ◽  
G Stoltenburg-Didinger ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Muscle Weakness ◽  
Limb Girdle Muscular Dystrophy

scholarly journals Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins

2019 ◽  
Vol 39 (3) ◽  
pp. 207-211
Author(s):  
Yanpeng Lu ◽  
Xueqin Song ◽  
Guang Ji ◽  
Hongran Wu ◽  
Duan Li ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Limb Girdle Muscular Dystrophy
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