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

A Saint-Lézer; G Solé; E Ribeiro; P Latour; P Mercié; M Longy-Boursier

doi:10.1016/j.neurol.2011.09.010

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

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

[Article in French]

Authors

A Saint-Lézer¹, G Solé, E Ribeiro, P Latour, P Mercié, M Longy-Boursier

Affiliation

¹ Service de médecine interne et maladies tropicales, hôpital Saint-André, CHU de Bordeaux, 1, rue Jean-Burguet, 33000 Bordeaux, France.

PMID: 22385972
DOI: 10.1016/j.neurol.2011.09.010

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.

Publication types

Case Reports
English Abstract

MeSH terms

Charcot-Marie-Tooth Disease / complications
Charcot-Marie-Tooth Disease / genetics*
Dynamin II / genetics*
Genetic Association Studies
Humans
Lysine / genetics
Male
Middle Aged
Mutation* / physiology
Neutropenia / complications
Neutropenia / genetics*
Sequence Deletion

Substances

Dynamin II
Lysine