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Review
. 2015 Jun;15(3):187-98.
doi: 10.1136/practneurol-2015-001095. Epub 2015 Apr 21.

A practical approach to the genetic neuropathies

Alexander M Rossor  1 , Matthew R B Evans  1 , Mary M Reilly  1
Affiliations
Review

A practical approach to the genetic neuropathies

Alexander M Rossor et al. Pract Neurol. 2015 Jun.

Abstract

Charcot-Marie-Tooth disease is the commonest inherited neuromuscular disease. It is characterised by degeneration of peripheral sensory and motor nerves and can be classified into axonal and demyelinating forms. This review provides a diagnostic approach to patients with suspected inherited neuropathy and an algorithm for genetic testing that includes recent advances in genetics such as next-generation sequencing. We also discuss important aspects of the long-term management of patients with inherited neuropathy.

Keywords: CLINICAL NEUROLOGY; GENETICS; HMSN (CHARCOT-MARIE-TOOTH); NEUROMUSCULAR.

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