KEGG   VARIANT: 1756v1
Entry
1756v1                      Variant                                
Name
DMD mutation
Type
Loss of function
Gene
DMD  dystrophin [KO:K10366]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations amenable to exon 51 skipping
Variation
mutations amenable to exon 53 skipping
Variation
mutations amenable to exon 45 skipping
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00562  Dystrophinopathies
H01963  Duchenne muscular dystrophy
Drug target
Casimersen: D11988<US>
Delandistrogene moxeparvovec: D12633<US>
Eteplirsen: D09900<US>
Golodirsen: D11707<US>
Viltolarsen: D11528<JP/US>
Reference
  Authors
Lim KR, Maruyama R, Yokota T
  Title
Eteplirsen in the treatment of Duchenne muscular dystrophy.
  Journal
Drug Des Devel Ther 11:533-545 (2017)
DOI:10.2147/DDDT.S97635
Reference
  Authors
Rodrigues M, Yokota T
  Title
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.
  Journal
Methods Mol Biol 1828:31-55 (2018)
DOI:10.1007/978-1-4939-8651-4_2
LinkDB

KEGG   VARIANT: 1756v2
Entry
1756v2                      Variant                                
Name
DMD mutation
Type
Loss of function
Gene
DMD  dystrophin [KO:K10366]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300377
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00562  Dystrophinopathies
Reference
  Authors
Tuffery-Giraud S, Beroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossee M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M
  Title
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
  Journal
Hum Mutat 30:934-45 (2009)
DOI:10.1002/humu.20976
LinkDB

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