A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

2007 ◽  
Vol 29 (4) ◽  
pp. 234-238 ◽  
Author(s):  
Yi-Ching Lin ◽  
Terumi Murakami ◽  
Yukiko K. Hayashi ◽  
Ichizo Nishino ◽  
Ikuya Nonaka ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Taiwanese Patient

A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy

2001 ◽  
Vol 11 (2) ◽  
pp. 139-145 ◽  
Author(s):  
Hidetsugu Ueyama ◽  
Toshihide Kumamoto ◽  
Shin-ichiro Nagao ◽  
Tomoko Masuda ◽  
Hideo Horinouchi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Miyoshi Myopathy

scholarly journals Limb-girdle muscular dystrophy due to a novel homozygous ISPD gene mutation disclosed by whole exome sequencing

2015 ◽  
Vol 357 ◽  
pp. e339
Author(s):  
V. Mastorodemos ◽  
E. Vogiatzi ◽  
H. Latsoudis ◽  
P. Vorgia ◽  
G. Amoiridis ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Limb Girdle Muscular Dystrophy ◽  
Whole Exome

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

2007 ◽  
Vol 363 (4) ◽  
pp. 1033-1037 ◽  
Author(s):  
Roberta Biancheri ◽  
Antonio Falace ◽  
Alessandra Tessa ◽  
Marina Pedemonte ◽  
Sara Scapolan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Inflammatory Changes
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