The human cDNA containing the Y955C mutation seen in patients with chronic progressive external ophthalmoplegia is under the control of the alpha-myosin heavy chain promoter. Four lines were established: B, C, D and E. Line D is entered as the representative line. (J:122507)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count