Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortes...

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Bibliografske podrobnosti
izdano v:BMJ Open
Main Authors: Nikolic, Ana, Ricci, Giulia, Sera, Francesco, Bucci, Elisabetta, Govi, Monica, Mele, Fabiano, Rossi, Marta, Ruggiero, Lucia, Vercelli, Liliana, Ravaglia, Sabrina, Brisca, Giacomo, Fiorillo, Chiara, Villa, Luisa, Maggi, Lorenzo, Cao, Michelangelo, D'Amico, Maria Chiara, Siciliano, Gabriele, Antonini, Giovanni, Santoro, Lucio, Mongini, Tiziana, Moggio, Maurizio, Morandi, Lucia, Pegoraro, Elena, Angelini, Corrado, Di Muzio, Antonio, Rodolico, Carmelo, Tomelleri, Giuliano, Grazia D'Angelo, Maria, Bruno, Claudio, Berardinelli, Angela, Tupler, Rossella
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2016
Teme:
Neurology
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4716236/
https://ncbi.nlm.nih.gov/pubmed/26733561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2015-007798
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