Actn3 deficiency
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Sign InDescription
Approximately 16% of the world population is predicted to have congenital deficiency of alpha-actinin-3 based on a common nonsense polymorphism in the ACTN3 gene. Expression of alpha-actinin-3 is limited to a subset of type 2 (fast) fibers. No disease phenotype is associated with this deficiency (North et al., 1999).
Mode of Inheritance
VARIANTS
1
Genes
External Links
OMIM
Orphanet
HPO
Medgen