title: [Non-fortuitous dynamin II mutation-related association: neutropenia and Charcot-Marie-Tooth disease].
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.
authors.affiliation: Service de médecine interne et maladies tropicales, hôpital Saint-André, CHU de Bordeaux, 1, rue Jean-Burguet, 33000 Bordeaux, France.
authors.forename: A
authors.initials: A
authors.lastname: Saint-Lézer
authors.forename: G
authors.initials: G
authors.lastname: Solé
authors.forename: E
authors.initials: E
authors.lastname: Ribeiro
authors.forename: P
authors.initials: P
authors.lastname: Latour
authors.forename: P
authors.initials: P
authors.lastname: Mercié
authors.forename: M
authors.initials: M
authors.lastname: Longy-Boursier
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D034285:Dynamin II / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008239:Lysine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D009503:Neutropenia / Q000150:complications / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D034285:Dynamin II; D008239:Lysine