scholarly journals Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3

2019 ◽  
Vol 11 ◽  
pp. 122-124
Author(s):  
Alejandro Viloria-Alebesque ◽  
Elena Bellosta-Diago ◽  
Sonia Santos-Lasaosa ◽  
José Ángel Mauri-Llerda
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Familial Association

scholarly journals A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

2015 ◽  
Vol 3 (2) ◽  
pp. 92-98 ◽  
Author(s):  
Samiah A. Al‐Zaidy ◽  
Vinod Malik ◽  
Kelley Kneile ◽  
Xiomara Q. Rosales ◽  
Ana Maria Gomez ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Puerto Rican ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Progressive Form

scholarly journals Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A

10.1038/10579 ◽  
1999 ◽  
Vol 5 (7) ◽  
pp. 849-849 ◽  
Author(s):  
S. Baghdiguian ◽  
M. Martin ◽  
I. Richard ◽  
F. Pons ◽  
C. Astier ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3
Sign in / Sign up

Export Citation Format

Share Document