Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

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作者： Claudia,Strafella ^[1] ; Luca,Colantoni ^[1] ; Domenica,Megalizzi ^[1] ; Giulia,Trastulli ^[1] ; Emma Proietti,Piorgo ^[1] ; Guido,Primiano ^[2] ; Cristina,Sancricca ^[2] ; Giulia,Ricci ^[3] ; Gabriele,Siciliano ^[3] ; Carlo,Caltagirone ^[4] ; Massimiliano,Filosto ^[5] ; Giorgio,Tasca ^[6] ; Enzo,Ricci ^[7] ; Raffaella,Cascella ^[8] ; Emiliano,Giardina ^[1]

作者单位： Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy. ^[1] Neurofisiopathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. ^[2] Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. ^[3] Department of Clinical and Behavioral Neurology, IRCCS Fondazione Santa Lucia, Rome, Italy. ^[4] Department of Clinical and Experimental Sciences, University of Brescia, NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy. ^[5] John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK. ^[6] Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. ^[7] Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy. ^[8] Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, Tirana, Albania. ^[9] Department of Biomedicine and Prevention, Medical Genetics Laboratory, Tor Vergata University, Rome, Italy. ^[10]

关键词 D4Z4 FSHD de novo patients family study genetic counseling

主题词人类(Humans);肌营养不良, 面肩肱型(Muscular Dystrophy, Facioscapulohumeral);等位基因(Alleles);镶嵌现象(Mosaicism);意大利(Italy);染色体, 人, 4对(Chromosomes, Human, Pair 4)

DOI 10.1111/cge.14466

PMID 38041579

发布时间 2024-04-09

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