Article
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.
Neurology - 26 Nov 2013
Mademan Inès, Deconinck Tine, Dinopoulos Argirios, Voit Thomas, Schara Ulrike, Devriendt Koenraad, Meijers Björn, Lerut Evelyne, De Jonghe Peter, Baets Jonathan
Abstract excerpt
OBJECTIVE: Identification of mutations in the inverted formin-2 (INF2) gene in patients with Charcot-Marie-Tooth (CMT) disease combined with focal segmental glomerulosclerosis (FSGS) in order to expand the genetic and phenotypic spectrum. METHODS: We sequenced INF2 in 5 patients with CMT disease and FSGS. Mutations were subsequently screened in family members of the index patient and 264 control individuals....
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