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

Mutations in the DNAJB6 gene cause limb girdle muscular dystrophy D1 (LGMD D1) and distal myopathy with rimmed vacuoles. With the discovery of new mutations, the phenotypic spectrum of DNAJB6-related myopathy has been extended, making the diagnosis more complicated. In this study, we describe a fema...

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Veröffentlicht in:	Journal of human genetics 2022-07, Vol.67 (7), p.441-444
Hauptverfasser:	Xu, Ling, Geng, Hongzhi, Lv, Xiaoqing, Wang, Guangyu, Yan, Chuanzhu, Zhang, Dong, Lin, Pengfei
Format:	Artikel
Sprache:	eng
Schlagworte:	Androgen receptors Atrophy Differential diagnosis Electrophysiological recording Muscular dystrophy Mutation Myopathy Patients Polyglutamine Spinal and bulbar muscular atrophy Trinucleotide repeats Vacuoles
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