A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress
- Author:
Dong Wook NAMGUNG
1
;
Ji Man HONG
;
Jung Hwan LEE
;
Hyung Jun PARK
;
Young Chul CHOI
Author Information
- Publication Type:Case Report
- Keywords: Congenital fiber type disproportion; TPM3 protein; Respiratory insufficiency
- MeSH: Extremities; Humans; Muscle Weakness; Muscular Diseases; Mutation, Missense; Myopathies, Nemaline; Myopathies, Structural, Congenital; Respiratory Insufficiency; Ryanodine Receptor Calcium Release Channel; Tropomyosin
- From:Journal of the Korean Neurological Association 2019;37(2):174-177
- CountryRepublic of Korea
- Language:Korean
- Abstract: Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation 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 dominant TPM3 missense 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.
