released
September 17th, 2020 at 8:59pm
Details
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
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preferred_name
TTN-related myopathy
source_ontologies
synonyms
- congenital myopathy related to TTN
- TTN myopathy
term_id
MONDO:0100175
term_name
TTN-related myopathy
term_url
http://purl.obolibrary.org/obo/MONDO_0100175