Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

Autor: Raffaella Cascella1, 2, Claudia Strafella3, 4, Valerio Caputo3, Rosaria Maria Galota1, Valeria Errichiello3, Marianna Scutifero5, Roberta Petillo5, Gian Luca Marella6, Mauro Arcangeli 3, Luca Colantoni 1, Stefania Zampatti 1, Enzo Ricci 7, Giancarlo Deidda8, Luisa Politano5, Emiliano Giardina1, 3

Publikováno v: Frontiers in neurology (2018). doi:10.3389/fneur.2018.01027
info:cnr-pdr/source/autori:Raffaella Cascella1,2*, Claudia Strafella3,4, Valerio Caputo3, Rosaria Maria Galota1, Valeria Errichiello3, Marianna Scutifero5, Roberta Petillo5, Gian Luca Marella6, Mauro Arcangeli 3, Luca Colantoni 1, Stefania Zampatti 1, Enzo Ricci 7, Giancarlo Deidda8, Luisa Politano5 and Emiliano Giardina1,3/titolo:Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD/doi:10.3389%2Ffneur.2018.01027/rivista:Frontiers in neurology/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume
Frontiers in Neurology
Frontiers in Neurology, Vol 9 (2018)

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by de novo mutations, are often observed. FSHD may be cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bd9a4d4ceaa424de58320ba0c061c48
http://www.cnr.it/prodotto/i/395747