scholarly journals Homozygous nonsense mutation inSGCAis a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

2016 ◽  
Vol 54 (4) ◽  
pp. 690-695 ◽  
Author(s):  
Hemakumar M. Reddy ◽  
Sherifa A. Hamed ◽  
Monkol Lek ◽  
Satomi Mitsuhashi ◽  
Elicia Estrella ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Common Cause ◽  
Homozygous Nonsense Mutation

Ataluren: Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
U. Schara ◽  
C. McDonald ◽  
K. Bushby ◽  
M. Tulinius ◽  
R. Finkel ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Clinical Trial Results
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