" /> Hereditary myopathy with early respiratory failure - CISMeF





Preferred Label : Hereditary myopathy with early respiratory failure;

ICD-11 definition : Hereditary myopathy with early respiratory failure is an adult-onset progressive myopathy characterised by early presentation of respiratory insufficiency usually during ambulant stage. Pathologically, it shares features of myofibrillar myopathy besides the key finding of cytoplasmic bodies. Its causative gene TTN, which encodes a gigantic protein titin, is known to be causative also for tibial muscular dystrophy, limb girdle muscular dystrophy type 2J, early-onset myopathy with fatal cardiomyopathy and dilated or hypertrophic cardiomyopathy.;

ICD-11 synonym : Edström myopathy; HMERF - [hereditary myopathy with early respiratory failure];

ICD-11 acronym : HMERF;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :

Hereditary myopathy with early respiratory failure is an adult-onset progressive myopathy characterised by early presentation of respiratory insufficiency usually during ambulant stage. Pathologically, it shares features of myofibrillar myopathy besides the key finding of cytoplasmic bodies. Its causative gene TTN, which encodes a gigantic protein titin, is known to be causative also for tibial muscular dystrophy, limb girdle muscular dystrophy type 2J, early-onset myopathy with fatal cardiomyopathy and dilated or hypertrophic cardiomyopathy.

Nous contacter.
31/10/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.