Statistics

eDystrophin in figures (last update: 2014/04/03)

16 DMD transcripts and dystrophin isoforms
235 mutations and mutated proteins
1026 patients
84 structural domains in full length dystrophin
15 binding domains in full length dystrophin
154 protein structures (cristallography and models)

Type of mutation in eDystrophin

Phenotype distribution in eDystrophin

Pending: undiagnosed
Asymptomatic: no symptoms observed
BMD: Becker Muscular Dystrophy
IMD: Intermediate Muscular Dystrophy
DMD: Duchenne Muscular Dystrophy
DCM: X-linked dilated Cardiomyopathy
UK: Unknown

Origin of mutations and patients in eDystrophin

Statistics of mutations included in eDystrophin