Dystrophinopathy presenting as congenital muscular dystrophy

Theodore Kyriakides, Gabriel Gabriel, Anthi Drousiotou, Mija Meznanic-Petrusa, Lefkos Middleton

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


We report a 3 1 2-year-old boy with congenital hypotonia, calf pseudohypertrophy, markedly delayed motor milestones and joint contractures. He was initially diagnosed to have congenital muscular dystrophy on the basis of the age of onset, a myopathic EMG, an elevated creatine kinase and a dystrophic muscle biopsy. Subsequently, dystrophin immunocytochemistry and immunoblot analysis showed complete absence of dystrophin. We suggest that male cases of CMD should undergo dystrophin analysis, if there is calf hypertrophy and markedly elevated CK (>2000 U/l).

Original languageEnglish
Pages (from-to)387-392
Number of pages6
JournalNeuromuscular Disorders
Issue number4
Publication statusPublished - 1994


  • Congenital muscular dystrophy
  • dystrophinopathy


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