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- Title
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.
- Authors
Zhang, Bentuo; Gang, Qiang; Meng, Lingchao; Li, Zhenyu; Chu, Xujun; Wu, Haohao; Yang, Junsu; Huang, Baogang; Du, Kang
- 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 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.
- Subjects
NERVE conduction studies; GENETIC variation; MOTOR neuron diseases; NONSENSE mutation; MUSCLE weakness
- Publication
BMC Medical Genomics, 2024, Vol 17, Issue 1, p1
- ISSN
1755-8794
- Publication type
Article
- DOI
10.1186/s12920-024-01996-3