VARIANT: 1829v1
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Entry
1829v1 Variant
Name
DSG2 mutation
Gene
DSG2
desmoglein 2 [KO:
K07597
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
125671
Network
nt06539
Cytoskeleton in muscle cells
Disease
H00293
Arrhythmogenic right ventricular cardiomyopathy
H00294
Dilated cardiomyopathy
Reference
PMID:
16773573
Authors
Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP
Title
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Journal
Am J Hum Genet 79:136-42 (2006)
DOI:
10.1086/504393
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