DMD - Gene browser

DMD

dystrophin

HCNC Approved Symbol: DMD (HGNC:2928)
Genomic Coordinates: 23:31,119,222 - 33,339,388 (Xp21.2-p21.1)
Synonyms: BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

141Patients

In total, 141 patients were diagnosed with a variant in the DMD gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

0141
Patient count

Elevated serum creatine kinase: 46 (32.6%)
Patient Count: 46 (32.6%)
% of total patients presenting each phenotype is shown in parentheses.
46 (32.6%)
Muscular dystrophy: 36 (25.5%)
Patient Count: 36 (25.5%)
% of total patients presenting each phenotype is shown in parentheses.
36 (25.5%)
Gowers sign: 23 (16.3%)
Patient Count: 23 (16.3%)
% of total patients presenting each phenotype is shown in parentheses.
23 (16.3%)
Muscle weakness: 22 (15.6%)
Patient Count: 22 (15.6%)
% of total patients presenting each phenotype is shown in parentheses.
22 (15.6%)
Elevated creatine kinase: 17 (12.1%)
Patient Count: 17 (12.1%)
% of total patients presenting each phenotype is shown in parentheses.
17 (12.1%)