Hereditary Myopathy with Early Respiratory Failure with a Heterozygous TTN Gene Missense Mutation

Abstract

Hereditary myopathy with early respiratory failure (HMERF) is characterized by early respiratory insufficiency which is inappropriate to the degree of limb muscle weakness. Recently, mutation in <i>TTN</i> gene was found in HMERF patients with the aid of gene sequencing. We describe the first case presenting with distal leg weakness and early respiratory failure confirmed by <i>TTN</i> gene mutation in Korea.