Article
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 2014
Caridi Gianluca, Lugani Francesca, Dagnino Monica, Gigante Maddalena, Iolascon Achille, Falco Mariateresa, Graziano Claudio, Benetti Elisa, Dugo Mauro, Del Prete Dorella, Granata Antonio, Borracelli Donella, Moggia Elisabetta, Quaglia Marco, Rinaldi Rita, Gesualdo Loreto, Ghiggeri Gian Marco
Abstract excerpt
BACKGROUND: Mutations of INF2 represent the major cause of familial autosomal dominant (AD) focal segmental glomerulosclerosis (FSGS). A few patients present neurological symptoms of Charcot-Marie-Tooth (CMT) disease but the prevalence of the association has not been assessed yet. METHODS: We screened 28 families with AD FSGS and identified 8 INF2 mutations in 9 families (32 patients overall), 3 of which were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.