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Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy.

Neurology - 19 Jan 2021

Argente-Escrig Herminia, Burns Joshua, Donlevy Gabrielle, Frasquet Marina, Cornett Kayla, Sevilla Teresa, Menezes Manoj P

Abstract excerpt

OBJECTIVE: To describe the clinical, genetic, and disability profile of pediatric distal hereditary motor neuropathy (dHMN) and to determine the utility of an outcome measure validated for children with Charcot-Marie-Tooth disease (CMT) in assessing disability in this cohort. METHODS: We reviewed the clinical, neurophysiologic, and disability data on individuals with dHMN, evaluated before the age of 20 years, at...

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PMID: 33067402
DOI: 10.1212/WNL.0000000000011054

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