Gene table: search width pubmed_id = 20418530


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

protein
All allelic disease phenotypes - locus/disease symbols
Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - (AD/AR)
3.37
20418530
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle
* Myopathy congenital, with fiber-type disproportion - CFTD
* Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP
* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3