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MeSH:(Muscular Dystrophies, Limb-Girdle/*genetics)

3.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

4.Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I.

Guangyu WANG ; Ling XU ; Dandan ZHAO ; Chuanzhu YAN ; Pengfei LIN

Chinese Journal of Medical Genetics 2022;39(11):1205-1210

5.Analysis of genetic variants in five pedigrees affected with Dysferlinopathy.

Yanjie XIA ; Panlai SHI ; Yaqin HOU ; Duo CHEN ; Peng DAI ; Xinyu ZHAO ; Xiangdong KONG

Chinese Journal of Medical Genetics 2021;38(3):205-209

6.Analysis of clinical characteristics and genetic variants in two children with Limb-girdle muscular dystrophy autosomal recessive 9 FKRP-related.

Jie YU ; Min XU ; Le DING ; Yanjun HUANG ; Hu GUO ; Yan HE

Chinese Journal of Medical Genetics 2023;40(10):1217-1221

7.Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case.

Wei WANG ; Ying HAO ; Renbin WANG ; Miao JIN ; Jinsong JIAO

Chinese Journal of Medical Genetics 2014;31(4):476-478

8.Analysis of TNPO3 gene variant and clinical phenotype in a neonate with limb-girdle muscular dystrophies form 1F.

Min GAO ; Liangchao HOU ; Kaihui ZHANG ; Yuqiang LYU ; Jian MA ; Dong WANG ; Zhongtao GAI ; Yi LIU

Chinese Journal of Medical Genetics 2022;39(9):979-982

9.Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy.

Xiaona FU ; Aijie LIU ; Haipo YANG ; Cuijie WEI ; Juan DING ; Shuang WANG ; Jingmin WANG ; Yun YUAN ; Yuwu JIANG ; Hui XIONG

Chinese Journal of Pediatrics 2015;53(10):741-746

10.Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

Hyung Jun PARK ; Hoon JANG ; Jung Hwan LEE ; Ha Young SHIN ; Sung Rae CHO ; Kee Duk PARK ; Duhee BANG ; Min Goo LEE ; Seung Min KIM ; Ji Hyun LEE ; Young Chul CHOI

Yonsei Medical Journal 2016;57(1):173-179

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