scholarly journals Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A Patient

2009 ◽  
Vol 68 (6) ◽  
pp. 701-707 ◽  
Author(s):  
Sherine Shalaby ◽  
Hiroaki Mitsuhashi ◽  
Chie Matsuda ◽  
Narihiro Minami ◽  
Satoru Noguchi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Exon 9

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

2011 ◽  
Vol 258 (8) ◽  
pp. 1437-1444 ◽  
Author(s):  
Peter Reilich ◽  
Sabine Krause ◽  
Nicolai Schramm ◽  
Ursula Klutzny ◽  
Stefanie Bulst ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Severe Form ◽  
Limb Girdle Muscular Dystrophy

scholarly journals Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J

2015 ◽  
Vol 53 (8) ◽  
pp. 5097-5102 ◽  
Author(s):  
Wen Zheng ◽  
Han Chen ◽  
Xiong Deng ◽  
Lamei Yuan ◽  
Yan Yang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family

Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L

2018 ◽  
Vol 19 (4) ◽  
pp. 228-231
Author(s):  
Leema Reddy Peddareddygari ◽  
Kinsi Oberoi ◽  
Ada Baisre-De Leon ◽  
Raji P. Grewal
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Limb Girdle Muscular Dystrophy

A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D

2016 ◽  
Vol 38 (3) ◽  
pp. 220-223 ◽  
Author(s):  
Marzieh Mojbafan ◽  
Yalda Nilipour ◽  
Seyed Hasan Tonekaboni ◽  
Javad Tavakkoly-Bazzaz ◽  
Sirous Zeinali
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Iranian Family

A novel mutation in two families with limb-girdle muscular dystrophy type 2C

Neurology ◽  
2006 ◽  
Vol 67 (1) ◽  
pp. 167-169 ◽  
Author(s):  
D. R. Duncan ◽  
P. B. Kang ◽  
J. C. Rabbat ◽  
C. E. Briggs ◽  
H.G.W. Lidov ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Limb Girdle Muscular Dystrophy

A novel mutation (86insA) in the alpha-sarcoglycan-gene leads to severe childhood autosomal recessive muscular dystrophy

2004 ◽  
Vol 35 (01) ◽  
Author(s):  
GP Ramelli ◽  
F Joncourt ◽  
M Gasparini ◽  
P Tonin
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Novel Mutation
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