DMD mutation types

Several different mutation types can prevent the creation of a full-length, functional dystrophin protein Footnotes Footnotes Footnotes 1–3

Mutations preventing the creation of full-length, functional dystrophin protein Footnotes Footnotes Footnotes 1–3
Pie chart suggesting that mutations...

nmDMD is caused by a point mutation leading to the presence of a premature stop codon in the DMD gene, which results in the creation of a truncated form of dystrophin Footnote 4

Normal translation of dystrophin
Normal translation of dystrophin
Incomplete translation of dystrophin due to a premature stop codon
Incomplete translation of dystrophin

The presence of a nonsense mutation in the dystrophin gene should be determined by genetic testing Footnote 4