A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy

Xu, L; Geng, HZ; Lv, XQ; Wang, GY; Yan, CAZ; Zhang, D; Lin, PF

Zhang, D; Lin, PF (通讯作者)，Shandong Univ, Qilu Hosp, Cheeloo Coll Med, Dept Neurol, Jinan 250012, Shandong, Peoples R China.;Zhang, D; Lin, PF (通讯作者)，Shangdong Univ, Qilu Hosp, Dept Neurol, Jinan 250012, Shandong, Peoples R China.

JOURNAL OF HUMAN GENETICS, 2022; 67 (7): 441

Abstract

Mutations in the DNAJB6 gene cause limb girdle muscular dystrophy D1 (LGMD D1) and distal myopathy with rimmed vacuoles. With the discovery of new mut......

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