A novel mutation in SORD gene associated with distal hereditary motor neuropathies

• المؤلفون الرئيسيون: Xiaoqin Yuan (مؤلف), Shanshan Zhang (مؤلف), Huifang Shang (مؤلف), Yufeng Tang (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2024-06-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract Background Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30 genes associated with dHMN have been reported, while 70-80% of those with the condition are still unable to receive...