Titin gene mutations in exon 344 encoding the fibronectin-3 (FN3) domain in the A-band region of titin are the cause for hereditary myopathy with early respiratory failure (HMERF) which is characterized by proximal and/or distal muscle weakness, and early and severe diaphragmatic respiratory insufficiency. The typical MRI pattern is diagnostic with fatty degeneration of semitendinosus, obturator muscles and anterolateral compartment of lower legs early in the disease course. Muscle histopathology shows cytoplasmic bodies usually in subsarcolemmal necklace-like formation, occasional rimmed vacuoles and also myofibrillar disorganization.

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...