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

• Auteurs principaux: Bentuo Zhang (Auteur), Qiang Gang (Auteur), Lingchao Meng (Auteur), Zhenyu Li (Auteur), Xujun Chu (Auteur), Haohao Wu (Auteur), Junsu Yang (Auteur), Baogang Huang (Auteur), Kang Du (Auteur)
• Format: Livre
• Publié: BMC, 2024-09-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...