1.
Clin Case Rep
; 10(7): e6008, 2022 Jul.
Artículo
en Inglés
| MEDLINE
| ID: mdl-35846917
RESUMEN
A 2-month-old male patient harboring a duplication of DMD exons 1-7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK, further supporting our reclassification.