CRISPR/Cas9 technology inserted a 480 CTG repeat expansion into the 3'UTR. The CTG expansions are stable with no germline contractions or expansions observed up to 12 months of age. (J:284198)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count