Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations

Abstract

Salih myopathy is autosomal recessive hereditary early-onset myopathy with fatal cardiomyopathy. It is a rare and heterogeneous form of congenital titinopathies (TTN). Affected children have delayed motor development, normal mental development, and in further course dilated cardiomyopathy. Motor functions have a tendency to improve, but death occurs most often before 20 years of age due to arrhythmias.

Keywords

• cardiomyopathies
• congenital hypotonia
• exome sequencing
• muscular diseases
• salih myopathy
• titinopathy