CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Fridman, Vera; N. Bundy, Brian; M. Reilly, Mary; Pareyson, Davide; Bacon, Chelsea; Burns, Joshua; Day, John; Feely, Shawna; S. Finkel, Richard; Grider, Tiffany; A. Kirk, Callyn; N. Herrmann, David; Laurá, Matilde; Li, J; E. Lloyd, Thomas; J. Sumner, Charlotte; Muntoni, Francesco; Piscosquito, Giuseppe; Ramchandren, S; Shy, Rosemary; E. Siskind, Carly; W. Yum, Sabrina; Moroni, Isabella; Pagliano, Emanuela; Züchner, Stephan; S. Scherer, Steven; E. Shy, Michael

doi:10.1136/jnnp-2014-308826

Public

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Published in Journal of Neurology Neurosurgery & Psychiatry • Nov 27, 2014

Authors:

Vera Fridman

Brian N. Bundy

Mary M. Reilly

Abstract

BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtype...

Subject

Natural history

Medicine

Mutation

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