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

A new LMNA mutation causing limb girdle muscular dystrophy 1B

2005 ◽  
Vol 252 (5) ◽  
pp. 621-623 ◽  
Author(s):  
S. Spuler ◽  
Ch. Geier ◽  
K. J. Osterziel ◽  
M. Gutberlet ◽  
J. Genschel ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
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

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

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

scholarly journals Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del

2016 ◽  
Vol 58 (1) ◽  
pp. 87-91 ◽  
Author(s):  
Agnieszka Madej-Pilarczyk ◽  
Adam Niezgoda ◽  
Magdalena Janus ◽  
Romuald Wojnicz ◽  
Michał Marchel ◽  
...  
Keyword(s):  
Heart Failure ◽  
Muscular Dystrophy ◽  
Severe Heart Failure ◽  
Limb Girdle Muscular Dystrophy ◽  
Lmna Mutation

scholarly journals Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan

2015 ◽  
Vol 56 (1) ◽  
pp. 62-65 ◽  
Author(s):  
Chien-Hua Wang ◽  
Wen-Chen Liang ◽  
Narihiro Minami ◽  
Ichizo Nishino ◽  
Yuh-Jyh Jong
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
First Report
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