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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716236/
https://www.ncbi.nlm.nih.gov/pubmed/26733561
http://dx.doi.org/10.1136/bmjopen-2015-007798

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