Patients
A DMD familial case was referred to our laboratory. The index case was a 35-year-old symptomatic pregnant woman (II1) who was pursuing a prenatal diagnosis. She has a deceased affected brother (II2), diagnosed with DMD by muscle biopsy. Another key relative was a 17-year-old nephew (III4), who was previously diagnosed by multiplex-PCR with a DMD 45-54 exons deletion. Pedigree is shown in figure 1A.
The pregnant woman referred difficulties at walking and climbing stairs since she was 21-year-old, a muscle biopsy compatible with DMD, 3,100IU/l CK levels and a normal female karyotype (46,XX).