TPM3-related myopathy
TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0017303
neuromuscular disease caused by qualitative or quantitative defects of tropomyosin
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MONDO:0019952
congenital myopathy
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MONDO:0100545
hereditary neurological disease
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TPM3 myopathy
exact
TPM3-related myopathy
exact
autosomal dominant TPM3-related myopathy
narrow
congenital myopathy related to TPM3
exact
SPAC27F1.02c