Title: | Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report |
Journal : | BMC Medical Genetics, 17, 1 |
Authors: | Gaillard MC, Author ; Puppo F ; Roche S ; Dion C ; Campana ES ; Mariot V ; Chaix C ; Vovan C ; Mazaleyrat K ; Tasmadjian A ; Bernard R ; Dumonceaux J ; Attarian S ; Levy N ; Nguyen K ; Magdinier F ; Bartoli M |
Material Type: | Article |
Publication Date: | 2016 |
Languages: | English |
Keywords : | case studies ; chromosome 4 ; D4Z4 locus ; elderly people ; facioscapulohumeral muscular dystrophy ; family trees ; female ; France ; gène SMCHD1 ; genetic insertions ; genetic mapping ; methylation ; physiopathology ; RT-PCR ; sequencing ; Western blot |
Keywords: | DNA combing;DNA methylation;DUX4;Facio-Scapulo-Humeral Dystrophy;Haploinsufficiency;SMCHD1; |
Pubmed / DOI : | DOI : 10.1186/s12881-016-0328-9 / Pubmed : 27634379 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27634379 |