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MeSH:(Muscular Dystrophies, Limb-Girdle)

3.Research advances in limb-girdle muscular dystrophy type 2Q.

Min ZHANG ; Dan LAN

Chinese Journal of Contemporary Pediatrics 2019;21(8):839-844

6.Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D.

Lirong DING ; Shaohua TANG ; Huanzheng LI ; Xueqin XU ; Zhaotang LUAN ; Qian ZHANG ; Jianxin LYU

Chinese Journal of Medical Genetics 2019;36(2):136-139

7.A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation

Young Eun PARK ; Hwan Jun SON ; Chang Hoon LEE ; Jin Hong SHIN ; Dae Seong KIM

Journal of the Korean Neurological Association 2018;36(3):215-219

8.Diagnostic Significance of Immunohistochemical Staining in Muscular Dystrophy.

Dae Seong KIM

Journal of the Korean Neurological Association 2006;24(1):1-13

9.Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.

Hyung Jun PARK ; Young Chul CHOI ; Seung Min KIM ; Se Hoon KIM ; Young Bin HONG ; Bo Ram YOON ; Ki Wha CHUNG ; Byung Ok CHOI

Journal of Clinical Neurology 2015;11(2):183-187

10.R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.

Wo-liang YUAN ; Chun-yan HUANG ; Jing-feng WANG ; Shuang-lun XIE ; Ru-qiong NIE ; Ying-mei LIU ; Pin-ming LIU ; Shu-xian ZHOU ; Su-qin CHEN ; Wei-jun HUANG

Chinese Medical Journal 2009;122(23):2840-2845

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