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Deletion mutations in DMD/BMD identified in Czech Republic / Slovakia

(last modified May 02, 2009)

The data shown have been published by Brabec et al. (2009). Date were collected from seven Czech centres in Prague, Brno and Ostrava and also includes patients from Slovakia. Detailed data are available from the Czech DMD/BMD patient database/registry. Since only summary data were published, the variants could not be added to the DMD gene variant databases.

Deletions

Cases DMD BMD Total
deletion 60 17 77
duplication 10 2 12
point mutation 17 1 18
pathogenic variant unknown 15 4 19
carrier females 102 24 126

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