A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

Inositol polyphosphate-5-phosphatase K [INPP5K (MIM: 607875)] acts as a PIP(3) 5-phosphatase and regulates actin cytoskeleton, insulin, and cell migration. Biallelic pathogenic variants in INPP5K have recently been reported in patients affected by a form of muscular dystrophy with childhood onset. A...

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Bibliographic Details
Published in:Front Genet
Main Authors: D’Amico, Adele, Fattori, Fabiana, Nicita, Francesco, Barresi, Sabina, Tasca, Giorgio, Verardo, Margherita, Pizzi, Simone, Moroni, Isabella, De Mitri, Francesca, Frongia, Annalia, Pane, Marika, Mercuri, Eugenio, Tartaglia, Marco, Bertini, Enrico
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2020
Subjects:
Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7530278/
https://ncbi.nlm.nih.gov/pubmed/33193651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.565868
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