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Persistent hyperCKemia results from muscle dysfunction often attributed to genetic alterations of muscle-related genes, such as the dystrophin gene  (DMD) . Retrospective assessment of findings from  DMD  analysis, in association with persistent HyperCKemia, was conducted. Evaluation of medical records from 1354 unrelated cases referred during the period 1996–2021. Assessment of data concerning the detection of  DMD  gene rearrangements and nucleotide variants. A total of 730 individuals (657 cases, 569 of Greek and 88 of Albanian origins) were identified, allowing an overall estimation of dystrophinopathy incidence at ~1:3800 live male births. The heterogeneous spectrum of 275 distinct  DMD  alterations comprised exon(s) deletions/duplications, nucleotide variants, and rare events, such as chromosome translocation {t(X;20)}, contiguous gene deletions, and a fused gene involving the  DMD  and the  DOCK8  genes. Ethnic-specific findings include a common founder variant in exon 36 (‘Hellenic’ variant). Some 50% of hyperCKemia cases were characterized as dystrophinopathies, highlighting that  DMD  variants may be considered the most common cause of hyperCKemia in Greece. Delineation of the broad genetic and clinical heterogeneity is fundamental for actionable public health decisions and theragnosis, as well as the establishment of guidelines addressing ethical considerations, especially related to the mild asymptomatic patient subgroup.

expert review of molecular diagnostics

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast  DMD  variant heterogeneity