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Case Reports
. 2012 Apr;168(4):367-70.
doi: 10.1016/j.neurol.2011.09.010. Epub 2012 Mar 3.

[Non-fortuitous dynamin II mutation-related association: neutropenia and Charcot-Marie-Tooth disease]

[Article in French]
A Saint-Lézer  1 , G Solé, E Ribeiro, P Latour, P Mercié, M Longy-Boursier
Affiliations
Case Reports

[Non-fortuitous dynamin II mutation-related association: neutropenia and Charcot-Marie-Tooth disease]

[Article in French]
A Saint-Lézer et al. Rev Neurol (Paris). 2012 Apr.

Abstract

Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is a genetically and clinically heterogeneous group of disorders of the peripheral nervous system. Mutations in multiple genes are currently known. We report an original case of CMT associated with chronic neutropenia in a patient with a K562del mutation in the dynamin 2 (DNM2) gene in a patient presenting with alterated cognitive function. Associated manifestations may guide molecular study.

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