Gene table: search width pubmed_id = 10553984


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myofbrillar myopathy with arrhythmogenic right ventricular cardiomyopathy - (AD)
5.12
10553984
18197198
22395865
DES (2q35)
Desmin
* Desmin-related myopathy - DRM
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R
* Dilated cardiomyopathy, 1I - CMD1I
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E