| Author/Editor | Kyriakides, T; Gabriel, G; Drousiotou, A; Meznarič-Petruša, M; Middleton, L | |
| Title | Dystrophinopathy presenting as congenital muscular dystrophy | |
| Type | članek | |
| Source | Neuromuscul Disord | |
| Vol. and No. | Letnik 4, št. 4 | |
| Publication year | 1994 | |
| Volume | str. 387-92 | |
| Language | eng | |
| 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 ( more th. 2000 U/l). | |
| Descriptors | DYSTROPHIN MUSCULAR DYSTROPHY BIOPSY CHILD, PRESCHOOL DIAGNOSIS, DIFFERENTIAL IMMUNOBLOTTING IMMUNOHISTOCHEMISTRY MUSCLES |