Gene

Nemaline myopathy

Biopsy

Biology

Respiratory distress

Missense mutation

Surgery

Cardiology

Mutation

Anesthesia

Congenital myopathy

Genetics

Pediatrics

Actin

Tropomyosin

Anatomy

Myopathy

Internal medicine

Distress

Respiratory system

Medicine

Clinical psychology

Gene mutation

Muscle biopsy

Journal of the Korean Neurological Association

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.

A Family of Congenital Fiber Type Disproportion with Mutation in &lt;i&gt;Tropomyosin 3&lt;/i&gt; (&lt;i&gt;TPM3&lt;/i&gt;) Gene Presenting as Altered Mentality with Respiratory Distress

A Family of Congenital Fiber Type Disproportion with Mutation in &lt;i&gt;Tropomyosin 3&lt;/i&gt; (&lt;i&gt;TPM3&lt;/i&gt;) Gene Presenting as Altered Mentality with Respiratory Distress

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