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 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

2000 ◽  
Vol 10 (8) ◽  
pp. 553-559 ◽  
Author(s):  
Louise V.B Anderson ◽  
Ruth M Harrison ◽  
Robert Pogue ◽  
Elizabeth Vafiadaki ◽  
Christine Pollitt ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3 ◽  
Miyoshi Myopathy

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 novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

2002 ◽  
Vol 51 (1) ◽  
pp. 129-133 ◽  
Author(s):  
Mengfatt Ho ◽  
Eduard Gallardo ◽  
Diane McKenna-Yasek ◽  
Noemi De Luna ◽  
Isabel Illa ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Diagnostic Assay ◽  
Miyoshi Myopathy

Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

1999 ◽  
Vol 8 (5) ◽  
pp. 871-877 ◽  
Author(s):  
T. Weiler ◽  
R. Bashir ◽  
L. V. B. Anderson ◽  
K. Davison ◽  
J. A. Moss ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Modifier Gene ◽  
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

Generation of a 3-Mb PAC Contig Spanning the Miyoshi Myopathy/Limb-Girdle Muscular Dystrophy (MM/LGMD2B) Locus on Chromosome 2p13

Genomics ◽  
1998 ◽  
Vol 49 (1) ◽  
pp. 23-29 ◽  
Author(s):  
Jing Liu ◽  
Chenyan Wu ◽  
Karen Bossie ◽  
Khemissa Bejaoui ◽  
Betsy A. Hosler ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Miyoshi Myopathy

scholarly journals Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

2021 ◽  
Author(s):  
Ursula Moore ◽  
Heather Gordish ◽  
Jordi Diaz-Manera ◽  
Meredith K. James ◽  
Anna G. Mayhew ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Miyoshi Myopathy
Sign in / Sign up

Export Citation Format

Share Document