title: Dystrophinopathy presenting as congenital muscular dystrophy.
abstract: 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).
authors.affiliation: Department of Neurology, Cyprus Institute of Neurology and Genetics.
authors.forename: T
authors.initials: T
authors.lastname: Kyriakides
authors.forename: G
authors.initials: G
authors.lastname: Gabriel
authors.forename: A
authors.initials: A
authors.lastname: Drousiotou
authors.forename: M
authors.initials: M
authors.lastname: Meznanic-Petrusa
authors.forename: L
authors.initials: L
authors.lastname: Middleton
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000172:deficiency*; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis*
chemical_list: D016189:Dystrophin