A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26-MedSci.cn

A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26

Zhang, L; Li, WW; Weng, YT; Lin, KQ; Huang, K; Ma, SH; Chu, JY; Yang, ZQ; Zhang, XC; Sun, H

Zhang, XC (通讯作者)，Kunming Med Univ, Sch Pharmaceut Sci, Kunming, Yunnan, Peoples R China.;Zhang, XC (通讯作者)，Kunming Med Univ, Yunnan Key Lab Pharmacol Nat Prod, Kunming, Yunnan, Peoples R China.;Sun, H (通讯作者)，Chinese Acad Med Sci, Peking Union Med Coll, Inst Med Biol, Dept Med Genet, 935 Jiaoling Rd, Kunming 650118, Yunnan, Peoples R China.

Abstract

Limb-Girdle muscular dystrophy (LGMD) is a group of muscle disorders with highly heterogeneous genetic patterns and clinical phenotypes, and this grou......

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A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26

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