Article
Genetic heterogeneity of motor neuropathies.
Neurology - 28 Mar 2017
Bansagi Boglarka, Griffin Helen, Whittaker Roger G, Antoniadi Thalia, Evangelista Teresinha, Miller James, Greenslade Mark, Forester Natalie, Duff Jennifer, Bradshaw Anna, Kleinle Stephanie, Boczonadi Veronika, Steele Hannah, Ramesh Venkateswaran, Franko Edit, Pyle Angela, Lochmüller Hanns, Chinnery Patrick F, Horvath Rita
Abstract excerpt
OBJECTIVE: To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. METHODS: Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 patients), axonal...
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