TTN-related myopathy
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016191
neuromuscular disease caused by qualitative or quantitative defects of titin
is_a
MONDO:0019952
congenital myopathy
is_a
MONDO:0100545
hereditary neurological disease
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TTN myopathy
exact
congenital myopathy related to TTN
exact
SPBC21D10.12