Nemaline myopathy (NM) is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, respiratory weakness is often a major concern while intelligence is usually unimpaired. The histological hallmark of NM is the presence of Nemaline rods on muscle biopsy. Congenital Nemaline Body Myopathy due to mutations in TNNT1 has hitherto been described only as a result of a single founder mutation in patients of Amish origin and in two other families.
Using homozygosity mapping and Whole Exome Sequencing (WES) we identified nine Palestinian patients from seven families, all homozygous for a novel complex rearrangement in the TNNT1 gene. Their clinical course was remarkable for early respiratory failure ultimately leading to their demise or need for long term ventilation and a striking stiff cervical spine.
The dismal outcome associated with NEM in our patients adds impetus to efforts aimed at
Therapy though to date there is no specific curative therapy to treat NEM myopathy.
We describe the clinical and genetic features of our patients in the broader context of Congenital Myopathies and discuss current therapeutic attempts.
