In patients with systolic LVD or LV remodeling, the mutations identified were: deletion in intron 1 to exon 49 (one Duchenne MD patient) and deletions in exons 45 to 51 (two Becker MD patients) in the dystrophin gene; deletion of D4Z4 repeats in the DFS locus (4q35) (one patient with FSH MD); and 1300-1500 CTG triplet repeats in the DMPK gene (one patient with myotonic dystrophy).
Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.