Fig. 1

Clinical diagnosis and pedigree. a Pedigree of the family. For each individual year of birth is indicated together with the presence of SNP or mutation of the SMCHD1 gene and D4Z4 methylation level (%) at D4Z4 the DR1 (left) and 5’ (right) proximal regions. Individuals I1 and II1 carry the c.4614_4615insTATAATA heterozygous SMCHD1 mutation and display a low methylation levels compared to II2 and II3. b Presentation of a typical FSHD phenotype in the proband (II1) with characteristic asymmetrical scapulo humeral weakness and facial involvement