Duchenne muscular dystrophy

Summary
Synonym
  • Muscular dystrophy, Duchenne
Definition
A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Super Class
X-linked recessive disease muscular dystrophy
Related Genes
Displaying entries 51 - 60 of 77 in total
Gene ID Gene Symbol Description Source
9104 RGN regucalcin
9173 IL1RL1 interleukin 1 receptor like 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
9365 KL klotho
9388 LIPG lipase G, endothelial type
9672 SDC3 syndecan 3
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
11332 ACOT7 acyl-CoA thioesterase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
36773 Dg Dystroglycan

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Last updated: August 19, 2024