RS121964853 TPM3
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What This Variant Does
"Mutations in TPM3 are a common cause of congenital fiber type disproportion. [OMIM:?]
Associated Conditions
Congenital myopathy with fiber type disproportion
Congenital myopathy 4A
autosomal dominant
Congenital myopathy 4B
autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy with fiber type disproportion
Congenital myopathy 4A
autosomal dominant
Congenital myopathy 4B
autosomal recessive
Congenital myopathy with fiber type disproportion
Other Variants in TPM3