Fig. 2: Pedigrees of families with FGF14 pathogenic repeat expansions.
From: Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
A Pedigrees of families in which at least one affected subject had a number of AAG repeats ≥ 300. B Pedigrees of families in which at least one affected subject had a repeat number comprised between 250 and 299. Black symbols indicate affected subjects examined and sampled in the study. Gray symbols indicate subjects reported to be affected on history but that could not be examined. The number in brackets indicates the median number of repeats for the affected individuals of this family. The numbers in symbols indicate the number of siblings with the same sex. EXP indicates individuals with FGF14 expansions. C Pedigree of the family with NM_175929.3: c.239 T > G; p.(Leu80*). VAR = variant i.e., c.239 T > G; p.(Leu80*).
