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

First report of a novel LMNA mutation in a Chinese family with limb–girdle muscular dystrophy

2014 ◽  
Vol 93 (3) ◽  
pp. 843-847 ◽  
Author(s):  
GUO HONG ◽  
ZHOU DAN ◽  
DAI LIMENG ◽  
CHI LUXIANG ◽  
YUN BAI
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family ◽  
First Report ◽  
Lmna Mutation

Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain

2019 ◽  
Vol 266 (2) ◽  
pp. 498-506 ◽  
Author(s):  
Yanan Sun ◽  
Hai Chen ◽  
Yan Lu ◽  
Jianying Duo ◽  
Lin Lei ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family ◽  
Distal Muscle

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

Compound heterozygous DYSF variants causing limb‐girdle muscular dystrophy type 2B in a Chinese family

2020 ◽  
Vol 22 (11) ◽  
Author(s):  
Liangshan Li ◽  
Zhongcui Jing ◽  
Lei Cheng ◽  
Wenmiao Liu ◽  
Haiyan Wang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family ◽  
Compound Heterozygous

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
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