机构：[1]Department of Neurology, Qujing First People’s Hospital, Yunnan 655000, Qujing, China[2]Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing 100034, China
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 Chinese families, respectively. Next-generation sequencing and nerve conduction studies were performed for two probands. The probands in two families presented with the muscle weakness and wasting of both lower limbs and carried a c.2122 A > T (p.K708*) and c.1342 C > T&c.2071_2072delinsTT (p.R448*&p.A691L) variant, respectively. Prominently axonal impairment of motor nerves and slight involvement of sensory nerves were observed in nerve conduction study. Our study reported a "novel" nonsense mutation and a missense variant of autosomal recessive late-onset dHMN and reviewed reported MME variants associated with dHMN phenotype.
基金：
Yunnan Provincial Department of Education Science Research Funding
第一作者机构：[2]Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing 100034, China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Zhang Bentuo,Gang Qiang,Meng Lingchao,et al.A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families[J].BMC MEDICAL GENOMICS.2024,17(1):doi:10.1186/s12920-024-01996-3.
APA：
Zhang, Bentuo,Gang, Qiang,Meng, Lingchao,Li, Zhenyu,Chu, Xujun...&Du, Kang.(2024).A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.BMC MEDICAL GENOMICS,17,(1)
MLA：
Zhang, Bentuo,et al."A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families".BMC MEDICAL GENOMICS 17..1(2024)
