Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2). In 70-80 % of these patients, variants of the SMCHD1 gene segregate with 4...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: Gaillard, Marie-Cécile, Puppo, Francesca, Roche, Stéphane, Dion, Camille, Campana, Emmanuelle Salort, Mariot, Virginie, Chaix, Charlene, Vovan, Catherine, Mazaleyrat, Killian, Tasmadjian, Armand, Bernard, Rafaelle, Dumonceaux, Julie, Attarian, Shahram, Lévy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, Bartoli, Marc
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5025538/
https://ncbi.nlm.nih.gov/pubmed/27634379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0328-9
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars