Article
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.
Neurobiology of aging - 1 Apr 2014
Le Ber Isabelle, Van Bortel Inge, Nicolas Gael, Bouya-Ahmed Kawtar, Camuzat Agnès, Wallon David, De Septenville Anne, Latouche Morwena, Lattante Serena, Kabashi Edor, Jornea Ludmila, Hannequin Didier, Brice Alexis
Abstract excerpt
hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a rare complex phenotype associating frontotemporal lobar degeneration (FTLD), Paget disease of bone (PDB), inclusion body myopathy (IBM), and amyotrophic lateral sclerosis (ALS). No study has evaluated the exact frequency of these genes in cohorts of MSP or FTD...
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