Balkan Journal of Medical Genetics

SEVERE FORM OF SALIH MYOPATHY CAUSED BY COMBINATION OF TWO HETEROZYGOUS TTN MUTATIONS
Milojković M, Jarić M, Stojanović V, Barišić N, Kavečan I
*Corresponding Author: Assistant Milica Milojkovic, MD, PhD, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljkova 10, 21000 Novi Sad, Serbia; e-mail: milica.milojkovic@mf.uns.ac.rs
page: 73

INTRODUCTION

Salih myopathy is also known as early-onset myopathy with fatal cardiomyopathy, which is a rare and heterogeneous form of congenital titinopathies (TTN). It is an autosomal recessive hereditary neuromuscular disorder with early onset of its clinical manifestations in the neo- natal period or in early childhood (1,2). Affected children have delayed motor development, with joint contractures and scoliosis at a later age. Most cases have normal mental development. Further progression of the disease leads to the development of dilated cardiomyopathy. Death occurs due to arrhythmias, most often between 8 and 20 years of age (3,4). Salih myopathy is ultra-rare disease. It was first de- scribed in two Arab families, in 2007 (5). The prevalence of Salih myopathy is unknown, as it occurs in a small number of families of Moroccan and Sudanese origin. The diagnosis is made in the proband by identifying biallelic pathogenic variants in the first three exons encod- ing the M-line (Mex1, Mex2, and Mex3) of TTN, the only gene for which pathogenic variants are known to cause Salih myopathy (6). Treatment requires a multidisciplinary approach (3).

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