Article

A novel mutation in SORD gene associated with Distal Hereditary Motor Neuropathies

2023-10-11

Abstract excerpt

<h4>Background: </h4> 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 o...

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Literature Corpus work: e365cd02-d970-5f2d-92f9-47ee1a63d99a
DOI: 10.21203/rs.3.rs-3386499/v1

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