Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review

• Main Authors: Gang Zhang (Author), Min Xu (Author), Tingting Huang (Author), Wenxin Lin (Author), Jinglin Chen (Author), Wangyang Chen (Author), Xingzhi Chang (Author)
• Format: Book
• Published: BMC, 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. Case presentation The...