Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol DMD contributors: mct/pgu - updated : 04-03-2015
HGNC name dystrophin
HGNC id 2928
  • increased levels of matrix metalloproteinase-9 (Mmp-9) protein causes myopathy in dystrophin-deficient mdx mice
  • suramin decreased creatine kinase in mdx mice and attenuated fibrosis in all muscles studied, except for cardiac muscle
  • severe muscle phenotype observed in mdx/mTRG2 animals is caused by defects in muscle stem cells function (MUSC), demonstrating that progressive loss of MUSC reserve plays a major role in determining the severity of the dystrophic phenotype
  • mice lacking utrophin and dystrophin (mdx/utrn -/-) are severely affected and die prematurely
  • altered acetylcholine release in the hippocampus of dystrophin-deficient mice