J Korean Neurol Assoc.  2019 May;37(2):174-177. 10.17340/jkna.2019.2.10.

A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress

• Namgung DW
• Hong JM
• Lee JH
• Park HJ
• Choi YC

• KMID: 2454845
• DOI: http://doi.org/10.17340/jkna.2019.2.10

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.

Keyword

Congenital fiber type disproportion; TPM3 protein; Respiratory insufficiency

MeSH Terms

Extremities
Humans
Muscle Weakness
Muscular Diseases
Mutation, Missense
Myopathies, Nemaline
Myopathies, Structural, Congenital*
Respiratory Insufficiency
Ryanodine Receptor Calcium Release Channel
Tropomyosin*
Ryanodine Receptor Calcium Release Channel
Tropomyosin