2023
DOI: 10.21203/rs.3.rs-3386499/v1
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A novel mutation in SORD gene associated with Distal Hereditary Motor Neuropathies

Xiaoqin Yuan,
Shanshan Zhang,
Huifang Shang
et al.

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 a genetic diagnosis. Methods A 26-year-old man experiencing gradual weakness in his lower limbs was referred to our hospital, and data on clinical features, laboratory tests, and electrophysiological tests were collected.… Show more

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