Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18

2021 ◽  
Vol 100 (5) ◽  
pp. 643-644
Author(s):  
Nawale Hadouiri ◽  
Quentin Thomas ◽  
Véronique Darmency ◽  
Véronique Dulieu ◽  
Marie‐Gabrielle Mourot De Rougemont ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Uniparental Disomy ◽  
Limb Girdle Muscular Dystrophy ◽  
Chromosome 4

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
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