Article
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC medical genetics - 15 Sept 2016
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
Abstract excerpt
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 4qA haplotypes and D4Z4 hypomethylation. CASE PRESENTATION: We report a family presenting with neuromuscular symptoms...
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