DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Isochromosomes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.010 GeneticVariation phenotype BEFREE In conclusion, we describe the first female patient with DMD who carries a de novo mutation of the dystrophin gene in one chromosome and isochromosome Xq, i(Xq), in another chromosome. 20944443 2010