OntologyTerm TTN-related myopathy

released
   September 17th, 2020 at 8:59pm

Details


definition 
A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes. (EFO)
namespace 
http://purl.obolibrary.org/obo
parents 
  1. no view permissions
  2. no view permissions
preferred_name 
TTN-related myopathy
source_ontologies 
synonyms 
  1. congenital myopathy related to TTN
  2. TTN myopathy
term_id 
MONDO:0100175
term_name 
TTN-related myopathy
term_url 
http://purl.obolibrary.org/obo/MONDO_0100175