Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

VARIANT - TERM ANNOTATION REPORT

RGD ID: 14715889
Species: Homo sapiens
RGD Object: Variant
Symbol: CV653370
Name: NC_000023.10:g.(?_32503016)_(32867957_?)del
Acc ID: DOID:11723
Term: Duchenne muscular dystrophy
Definition: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Definition Source(s): MESH:D020388, http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy, http://omim.org/entry/300377, http://www.genome.gov/19518854
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV653370 IAGP 8554872ClinVarClinVar Annotator: match by term: Duchenne muscular dystrophy

PMID:16030524, PMID:28492532, PMID:8543940, PMID:9800909
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.