Deletions and duplications in DMD/BMD - world-wide

(last modified May 02, 2009)

DMD deletion / duplication database
Listing of all deletions / duplications in the DMD-gene reported to us, spanning at least one exon and with an uncertain description at the nucleotide level (i.e precise location in the introns).
Other deletion / duplication mutations
- Argentina ()
- Australia (340)
- België (111)
- Brazil (251)
- Bulgaria (122/183 = 67%)
- Canada (119/181 = 66%)
- Chile (24/51 = 47%)
- China (90/138 = 65%)
- Czech Republic / Slovakia (89/126 = 71%)
- Denmark (101/171 = 59%, excluding 11 LGMD-2I)
- Egypt (78/152 = 51%)
- Estonia (11/26 = 42%)
- Filipines (11/35 = 31%)
- France
- Hungary (116/159 = 73%)
- India - North India (89/121 = 74%) and all parts of India (103/160 = 64%)
- Israel (in Shomrat et al., 1994 Am.J.Med.Genet. 49: 369-373)
- Italia (59 BMD patients)
- Japan
  - Kobe (51/76 = 67%)
  - Tokyo
- Nederland - Leiden
  overall totals, extent of deletions / duplications, frequency exon deletions / duplications in DMD and BMD, localisation deletion breakpoints (5' end / 3' end)
- Saudi Arabia
- South Africa (KwaZulu Natal, 39/68 deletions)
- Taiwan (32 deletions / 22 duplications = 61%)
- Turkey (146/242 = 60%)
- UK
- USA (238 deletions / 25 duplications)
- Yugoslavia
  - Mother and Child Health Institute of Serbia (92/166 = 55%)
  - Faculty of Medicine, Belgrade (16/44 = 36%)

Diagnostic techniques to detect deletions / duplications
- multiplex PCR
- Fluorescent in situ hybridization (FISH)
- Multiplex Amplifiable Probe Hybridisation (MAPH)
- Multiplex Ligation-dependent Probe Amplification (MLPA)

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