A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families

• Main Authors: Bentuo Zhang (Author), Qiang Gang (Author), Lingchao Meng (Author), Zhenyu Li (Author), Xujun Chu (Author), Haohao Wu (Author), Junsu Yang (Author), Baogang Huang (Author), Kang Du (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous diseases and previous studies have reported that the compound heterozygous recessive MME variants cause dHMN. Our study found a novel homozygous MME variant and a reported compound heterozygous MME variant in two Chine...