Congenital fiber type disproportion ; TPM3 protein ; Respiratory insufficiency
Abstract
Congenital fiber type disproportion (CFTD) has been related with mutations inACTA1,SEPN1,RYR1andtropomyosin 3(TPM3) genes. Particularly,TPM3mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominantTPM3missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.