Abstract
Background: Congenital fiber type disproportion (CFTD) is a congenital myopathy of which diagnosis is based on smaller sized type 1 fibers (fiber size disproportion [FSD]>12%; FSD=100×[mean type 2 fiber diameter−mean type 1 fiber diameter]/mean type 2 fiber diameter) with no structural abnormalities on muscle pathology. Causative mutations have been reported in three genes, α-tropomyosin slow (TPM3), skeletal muscle α-actin (ACTA1), and selenoprotein N (SEPN1). In the previous literatures, TPM3 mutations are the most common, but SEPN1 mutation was reported only in one family.
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