Abstract
Titin related disorder is an emerging genetic disorder that is not well described. New phenotypes are being described with improvement in diagnostic genetic testing. We are presenting a 16-year-old Indian boy with congenital static myopathy, complete ophthalmoplegia, thoracolumbar scoliosis and obstructive sleep apnea. His investigations were significant for abnormal muscle magnetic resonance imaging with severe involvement of the gluteal, anterior compartment muscle and clear adductor sparing. His muscle biopsy of right vastus lateralis showed multi-minicores and distinctive cap-like structures.
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